Genetics and Clinical Genomics
type: channel
description: The Journal Genetics and Clinical Genomics is a multi-country, peer-reviewed journal with publications in both Spanish and English. Its publications will be quarterly with its first issue in early 2023. It is affiliated to the Latin American Network for Cooperation in Genomics and Clinical Genetics, of the Editorial Infomedic International. The focus of the journal is to share experiences and knowledge in this field in Spanish-speaking countries with contributions from experts from other continents. The projection of the journal is to become a reference center for the implementation of molecular diagnostics and personalized medicine. The Journal is open and publishes original unpublished articles, review topics, clinical case reports, relevant short communications, letters to the editor, as well as related opinions expressed in editorials. Manuscripts will be accepted for publication only if they have not been previously published. The journal has started with two publication options, free and open access. The free option allows any author to submit their manuscript at no additional cost. The open access version uses the CCBY 4.0 license, which allows placement of your manuscript in HTML version and free redistribution of the manuscript. The Journal assumes no responsibility for the consequences of the use of the information contained in its publications. They reflect the exclusive point of view of their authors. Editorial Address: Consultorio Médicos Paitilla, #430, Panama Rep. Panama, P.O. Box 12639. Email: ventas@infomedicint.com Editorial Office Email: editor@geneticalatam.com
publisher: Infomedic International
language: en
publication name: Genetics and Clinical Genomics
issn: 3072-9610
copyright: La licencia de uso de los artículos y el contenido de este sitio web es libre para el uso individual académico, no comercial. Para cualquier otro uso, favor contactarnos con su solicitud. Para mayor información, visitar nuestras politicas editoriales: https://www.infomedicintl.com/index.php/politicas-editoriales/
items: From Variants to Vision: Reframing Precision Medicine in Diverse Populations
items: Prevalence of Factor V Leiden, Prothrombin G20210A, and MTHFR C677T Variants in Patients and Controls in Panama
items: Severe neonatal Costello syndrome caused by a de novo HRAS p.Gly12Cys variant: the role of whole-exome sequencing in differential diagnosis
items: High-grade serous ovarian cancer: from a Genetic perspective.
items: Craniofacial Microsomia in Cat-Eye Syndrome: Rethinking the formation mechanism through cytogenetic clues
items: Vitamin D-dependent rickets type 1A due to pathogenic variant in CYP27B1:Case report
items: Genetics and Entropy: Turning our gaze toward the thermodynamics of biological systems
items: Letter to the Editor - Operational impact of entropy concepts in genetics and medical practice
items: Editorial - Case reports as regional references
items: Miransertib and the PI3K/AKT pathway: an emerging therapeutic approach for Proteus syndrome
items: When Chromosome 15 Duplicates: A Clinical-Genetic Challenge
items: Phenotypic heterogeneity of Duplication Syndrome 22q11.2: relevance of genomic DNA analysis
items: Prevalence of Metabolic Syndrome X in patients diagnosed with Chronic Kidney Disease undergoing dialysis
items: Towards clinical genomics in Mexico: History and proposals
items: Progress and Perspectives of Genetic Diagnosis in Panama
items: Advances in genetic diagnosis in Colombia
items: Editorial - Regional cooperation and integration for the advancement of genetics and clinical genomics
items: The Landscape of Clinical Genetics in Honduras, Central America
items: Structure of a gene and its control elements
items: Understanding Molecular and Genomic Pathophysiology: Key to Effective Molecular Diagnosis
items: Evaluation and classification of articles related to the MTHFR gene and OMIM evidence.
items: First Reported Case Of Diploid/Triploid Mosaicism In The Dominican Republic
items: A Genomic Revolution: Advancing Health and Knowledge in Latin America
items: Protease S and Z inhibitor genotypes in the SERPINA1 gene in patients with COPD in the Republic of Panama
items: Advances and Perspectives of Genetic Pathologies in the 21st century.
items: Detection of a genetic variant of Apert syndrome
items: West Syndrome: spectrum of disorders with diagnostic and therapeutic challenges
items: Editorial Team - Vol 2 Num 2 2024
items: Chromoanagenesis and Erythroderma as diagnostic clues in a critically ill patient
items: De novo genetic variant in epileptic encephalopathy: Importance of specific diagnosis

From Variants to Vision: Reframing Precision Medicine in Diverse Populations
type: item
description: This editorial emphasizes that true precision medicine can only be achieved when genomics is interpreted within the context of specific populations, healthcare systems, and clinical realities. Drawing on studies of thrombosis, rare syndromes, and cancer, it highlights that many genetic markers are not universally applicable, that genomic diagnostic capabilities are advancing faster than the clinical systems needed to act on them, and that significant inequalities in access to key technologies persist. Overall, it underscores the need to move from data-driven genomics toward a more contextualized, equitable, and clinically actionable approach to medicine.
subject: Editorial
  topic: section
subject: clinical genomics
  topic: keywords
subject: presicion medicine
  topic: keywords
subject: translational medicine
  topic: keywords
creator: Jorge David Mendez Rios
rights: Copyright (c) 2026 This journal uses a CC-BY-NC-ND license for all material published. https://creativecommons.org/licenses/by-nc-nd/4.0
date: 2026-04-30
publication date: 2026-04-30
starting page: 1
ending page: 2
doi: 10.37980/im.journal.ggcl.20262806

Prevalence of Factor V Leiden, Prothrombin G20210A, and MTHFR C677T Variants in Patients and Controls in Panama
type: item
description: Background: Thrombosis is one of the leading causes of morbidity and mortality worldwide. Several genetic factors have been associated with increased thrombotic risk, including variants in Factor V Leiden (G1691A), prothrombin G20210A, and the C677T variant in the methylenetetrahydrofolate reductase gene (MTHFR). Identification of these variants may contribute to thrombotic risk assessment and clinical decision-making in patients with thromboembolic events or recurrent pregnancy loss. Methods: A case-control study was conducted to determine the prevalence of Factor V Leiden (G1691A), prothrombin G20210A, and methylenetetrahydrofolate reductase gene MTHFR C677T variants in a Panamanian population. A total of 105 patients with thrombosis and 105 controls were analyzed, in addition to 55 women with recurrent pregnancy loss and 55 controls without recurrent pregnancy loss or thrombosis. Results: Heterozygosity for Factor V Leiden was observed in 6.7% of patients with thrombosis and 1.0% of controls (OR 7.43;95% CI: 0.89–61.48). The prothrombin G20210A variant showed a moderate association with thrombosis (OR 2.58;95% CI: 0.48–13.58). These variants were not detected in women with recurrent pregnancy loss, and MTHFR C677T showed no association with thrombosis or recurrent pregnancy loss. Conclusion: Factor V Leiden and prothrombin G20210A variants were associated with an increased risk of thrombosis, whereas MTHFR C677T showed no association with thrombosis or recurrent pregnancy loss in the studied population.
subject: Original research
  topic: section
subject: Thrombosis
  topic: keywords
subject: genetic thrombophilia
  topic: keywords
subject: Factor V Leiden
  topic: keywords
subject: gene MTHFR
  topic: keywords
creator: José Cedeño
creator: Omar Espinosa
creator: Lydier De Gracia
creator: Luis Sotillo
rights: Copyright (c) 2026 This journal uses a CC-BY-NC-ND license for all material published. https://creativecommons.org/licenses/by-nc-nd/4.0
date: 2026-04-30
publication date: 2026-04-30
starting page: 12
ending page: 18
doi: 10.37980/im.journal.ggcl.20262787

Severe neonatal Costello syndrome caused by a de novo HRAS p.Gly12Cys variant: the role of whole-exome sequencing in differential diagnosis
type: item
description: Background: Costello syndrome is an ultra-rare RASopathy caused by gain-of-function mutations in the HRAS proto-oncogene, leading to constitutive activation of the RAS/MAPK signaling pathway and characterized by distinctive craniofacial features, multisystem involvement, and increased cancer risk. Case Presentation: We report a 37-week gestation male neonate with a prenatal diagnosis of severe polyhydramnios who presented at birth with coarse facies, macrocephaly, redundant skin, and severe multi-organ involvement initial chromosomal microarray analysis was normal (arr(X,Y)x1,(1–22)x2), but whole-exome sequencing identified a pathogenic heterozygous missense variant in the HRAS gene (c.34G >T p.Gly12Cys). Results: The clinical course was severe and progressive, with biventricular hypertrophic cardiomyopathy, complex arrhythmias, and prolonged dependence on mechanical ventilation, culminating in death at five months of age. Conclusions: This case highlights the diagnostic challenges associated with rare genetic disorders and underscores the importance of genomic sequencing as a fundamental diagnostic tool, while emphasizing genotype–phenotype correlations and the need for strict oncological surveillance due to the increased risk of malignancies such as rhabdomyosarcoma.
subject: Case report
  topic: section
subject: Costello syndrome
  topic: keywords
subject: HRAS gene
  topic: keywords
subject: RASopathies
  topic: keywords
subject: Hypertrophic cardiomyopathy
  topic: keywords
subject: Whole-exome sequencing
  topic: keywords
creator: Andrés Gonzalez
creator: Letty Muzzio
creator: Ruth Rugel
rights: Copyright (c) 2026 This journal uses a CC-BY-NC-ND license for all material published. https://creativecommons.org/licenses/by-nc-nd/4.0
date: 2026-04-30
publication date: 2026-04-30
starting page: 32
ending page: 37
doi: 10.37980/im.journal.ggcl.20262782

High-grade serous ovarian cancer: from a Genetic perspective.
type: item
description: Introduction: In Mexico, ovarian cancer (OC) is the third leading cause of death from malingnant tumors in women aged 30 to 59. High-grade serous epithelial cell OC is the most frequent (70-80%). Its location, slow growth, and nonspecific syntoms often lead to detection at advanced clinical stages. The objetive of this study is ti descibe, from a genetic and molecular perspective, the characteristics of a sample of patients with high-grade serous ovarian carcinoma (HSOC). Methods: Women uderwent molecular studies of the BRCA1/2 genes using next-generetion sequencing and/or large rearrangement analysis. Results: Thirteen Mexican women were included, in whom variants in the BRCA1 gene were found in 61.5% of cases. Of these, 15.4% presented with deletion of exons 9-12, and 23% prsented variants that produce a reading frame shift involving the alteration of a non-conserved nucliotide, considered VPs; which fall within the "ovarian cancer cluster region" (OCCR) in exon 11 of BRCA1. Case 7 presents a VP and has no history of ovarian cancer (OC), and is a young patient. Case 8, with a VUS, shows a family history of OC and other related cancers across several generations. Conclusions: Molecular studies are of great importance in patients with SAG-OC.
subject: Original research
  topic: section
subject: serous ovarian cancer
  topic: keywords
subject: BRCA1/2
  topic: keywords
subject: genotype
  topic: keywords
subject: phenotype
  topic: keywords
creator: Martha Orozco-Quiyono
creator: Liliana García-Ortiz
creator: Guadalupe Cervantes- Sánchez
rights: Copyright (c) 2026 This journal uses a CC-BY-NC-ND license for all material published. https://creativecommons.org/licenses/by-nc-nd/4.0
date: 2026-04-30
publication date: 2026-04-30
starting page: 3
ending page: 11
doi: 10.37980/im.journal.ggcl.20262769

Craniofacial Microsomia in Cat-Eye Syndrome: Rethinking the formation mechanism through cytogenetic clues
type: item
description: The wide spectrum of clinical and morphological manifestations turns the diagnosis of Craniofacial microsomia tricky, even more so having the overlap of phenotype with other comorbidities such as Cat-eye Syndrome. The distinction is established by cytogenetic tests, which may be a barrier in an underdevelopment/emergent country as Brazil. Here we report a patient with Craniofacial microsomia clinical manifestation that turned out to be a rare kind of Cat-eye Syndrome, the type II asymmetric. We also went 20 years back, through a literature review, pointing to gene contributions and rethinking the probable formation mechanisms of this complex chromosomal alteration of chromosome 22.
subject: Case report
  topic: section
subject: Craniofacial microsomia
  topic: keywords
subject: type II CES
  topic: keywords
subject: marker chromosome
  topic: keywords
subject: duplication mechanism
  topic: keywords
subject: replication fork collapse
  topic: keywords
creator: Rafaella Mergener
creator: João Pedro Paz Takeuchi
creator: Milene Merola
creator: Luisa Duarte Weissheimer
creator: Grasiela Agnes
creator: Patrícia Trevisan
creator: Bibiana Mello de Oliveira
creator: Têmis Maria Félix
creator: Paulo Ricardo Gazzola Zen
rights: Copyright (c) 2026 This journal uses a CC-BY-NC-ND license for all material published. https://creativecommons.org/licenses/by-nc-nd/4.0
date: 2026-04-30
publication date: 2026-04-30
starting page: 19
ending page: 31
doi: 10.37980/im.journal.ggcl.20262768

Vitamin D-dependent rickets type 1A due to pathogenic variant in CYP27B1:Case report
type: item
description: Clinical case: This is a case report of a one-year-old male infant with a history of chronic malnutrition and global developmental delay who was admitted to the Dr. José Renán Esquivel Children's Hospital with community-acquired pneumonia complicated by septic shock. Clinical and radiological findings: During his hospitalization, severe mineral metabolism disorders, multiple pathological fractures, and radiological findings consistent with severe rickets were documented. Biochemical findings: Biochemical studies revealed persistent hypocalcemia, marked elevation of alkaline phosphatase, and secondary hyperparathyroidism. Molecular diagnosis: Molecular study by whole exome sequencing identified a homozygous pathogenic variant in the CYP27B1 gene (NM_000785.4:c.602_611del; p.Val201AlafsTer31), confirming the diagnosis of vitamin D-dependent rickets type 1A. Treatment and outcome: Treatment with alfacalcidol and calcium supplementation was initiated, with a favorable initial clinical and biochemical response. Conclusion: This case highlights the importance of timely recognition of genetic forms of rickets and the use of effective therapeutic alternatives in settings where calcitriol is not available.
subject: Case report
  topic: section
subject: Vitamin D–Dependent Rickets Type 1A
  topic: keywords
subject: CYP27B1 Protein
  topic: keywords
subject: Hypocalcemia
  topic: keywords
subject: Pathologic Fractures
  topic: keywords
subject: Infant, Genetic Testing
  topic: keywords
creator: Kelineth Canto
creator: Oleg Saldaña
creator: Karla Solis
creator: Heidy López
rights: Copyright (c) 2026 This journal uses a CC-BY-NC-ND license for all material published. https://creativecommons.org/licenses/by-nc-nd/4.0
date: 2025-12-31
publication date: 2025-12-31
starting page: 63
ending page: 67
doi: 10.37980/im.journal.ggcl.20252759

Genetics and Entropy: Turning our gaze toward the thermodynamics of biological systems
type: item
description: A particular physical magnitude governs our existence in an unsuspected way: entropy, formulated from the Second Law of Thermodynamics. This review seeks to move beyond its traditional conception as an abstract notion of physics and to present it as a fundamental key to understanding how we arise, organize, and ultimately fade away. Entropy is examined from a biological and genetic perspective, drawing on rigorous scientific literature, both contemporary and classical, for its conceptual foundation. We explore how biological systems do not challenge the laws of physics but rather exploit them to sustain life, maintaining internal order at the expense of exporting entropy to the environment. The contributions of Schrödinger, Prigogine, and Lehninger are revisited to describe organisms as self-replicating dissipative structures capable of persisting through the extraction of negative entropy from their surroundings. In addition, the work of contemporary physicists such as Carroll and Greene is used to examine the intricate relationship between evolution and entropy. The informational dimension of entropy is also addressed through DNA, understood not only as a molecule but as a biological language. Finally, cancer and aging are explored as divergent pathways of a shared entropic principle. From the perspective of genetics and biology, life can be understood as a precise choreography of energy and information, whose progressive dissipation threatens the very continuity of existence.
subject: Literature Review
  topic: section
subject: entropy
  topic: keywords
subject: hermodynamics
  topic: keywords
subject: dissipative structures
  topic: keywords
subject: DNA
  topic: keywords
subject: cancer
  topic: keywords
creator: Alexandra V. Freire M.
rights: Copyright (c) 2025 This journal uses a CC-BY-NC-ND license for all material published. https://creativecommons.org/licenses/by-nc-nd/4.0
date: 2025-12-31
publication date: 2025-12-31
starting page: 80
ending page: 90
doi: 10.37980/im.journal.ggcl.20252757

Letter to the Editor - Operational impact of entropy concepts in genetics and medical practice
type: item
description: The general trend in medical practice is to integrate new knowledge and perspectives on human beings that help enrich our understanding of the mechanisms that enable their existence and help us combat diseases or other conditions that affect them. This refinement of understanding and this integrative vision come from the convergence of various areas of knowledge, such as biology and physics, since reality is a whole, which, due to the limitations of human capabilities and in order to study it better, we have had to divide into parts in order to assimilate all the information it contains. In this sense, the concepts of entropy and its role as a modeling force of the vital phenomenon are fundamental to substantially improve this vision. They provide us with an interesting perspective on evolutionary processes and could provide us with very useful tools for the specialized management of patients.
subject: Letter to the Editor
  topic: section
subject: energy
  topic: keywords
subject: second law of thermodynamics
  topic: keywords
subject: entropy
  topic: keywords
subject: negentropy
  topic: keywords
subject: thermodynamic advantage
  topic: keywords
creator: Enrique Daniel Austin-Ward
rights: Copyright (c) 2025 This journal uses a CC-BY-NC-ND license for all material published. https://creativecommons.org/licenses/by-nc-nd/4.0
date: 2025-12-31
publication date: 2025-12-31
starting page: 60
ending page: 62
doi: 10.37980/im.journal.ggcl.20252756

Editorial - Case reports as regional references
type: item
description: Dear colleagues and readers, We are pleased to present this new issue of the journal, which brings together original contributions that reflect both the scientific depth and the growing regional leadership of biomedical research in Latin America. The articles included in this edition span conceptual reflection, molecular genetics, and clinically grounded case reports, offering readers a diverse and meaningful perspective on contemporary challenges in medicine and genomics. A distinctive feature of this issue is its engagement with fundamental questions about life and disease. The review article “Genetics and Entropy: Turning our gaze toward the thermodynamics of biological systems” proposes an integrative view that connects genetics, biology, and physics through the concept of entropy. By revisiting classical and modern scientific thought, the authors invite readers to consider biological organization, evolution, aging, and cancer as expressions of underlying thermodynamic principles. This discussion is further enriched by a Letter to the Editor from Panama, which reflects on entropy as a conceptual tool in medical practice and highlights its potential to deepen our understanding of human health and disease. The issue also places strong emphasis on rare genetic disorders through carefully documented case reports that illustrate real diagnostic and therapeutic challenges. From Panama, the report on vitamin D–dependent rickets type 1A caused by a pathogenic CYP27B1 variant underscores the importance of early genetic diagnosis and demonstrates how effective treatment strategies can be implemented even in settings where access to standard therapies is limited. Two contributions from Colombia address the clinical complexity of chromosomal duplication syndromes. The case describing 22q11.2 duplication syndrome highlights the wide phenotypic variability associated with this condition and reinforces the value of chromosomal microarray analysis in achieving accurate diagnosi…
subject: Editorial
  topic: section
subject: editorial
  topic: keywords
subject: Clinical genomics
  topic: keywords
subject: Rare genetic diseases
  topic: keywords
subject: Precision medicine
  topic: keywords
creator: Jorge David Mendez-Rios
rights: Copyright (c) 2025 This journal uses a CC-BY-NC-ND license for all material published. https://creativecommons.org/licenses/by-nc-nd/4.0
date: 2025-12-31
publication date: 2025-12-31
starting page: 58
ending page: 59
doi: 10.37980/im.journal.ggcl.20252755

Miransertib and the PI3K/AKT pathway: an emerging therapeutic approach for Proteus syndrome
type: item
description: Introduction: Proteus syndrome is a rare disorder characterized by progressive tissue overgrowth associated with abnormal activation of the PI3K/AKT pathway, secondary to mutations in AKT1. Current therapeutic options are limited; however, miransertib, a selective AKT inhibitor, has emerged as a potential alternative by blocking the abnormally elevated activity of AKT1, a key mechanism underlying the dysregulated cellular proliferation that characterizes this disease. Objective: To describe the clinical, radiological, and functional outcomes of patients with Proteus syndrome treated with miransertib, and to evaluate its impact on lesion growth, mobility, and associated symptoms. Clinical cases: Four patients with Proteus syndrome are presented, including children, adolescents, and young adults, with variable clinical manifestations such as cerebriform connective tissue nevi, osseous overgrowth, musculoskeletal pain, functional limitation, and, in one case, associated neoplastic disease. Patients were treated with individualized miransertib dosing regimens and underwent clinical, functional, and imaging follow-up. Results: Treatment with miransertib was associated with a deceleration of lesion growth and, in some cases, a reduction in lesion size. Improvements in joint mobility, pain reduction, and stabilization of pulmonary and skeletal complications were also observed. In one patient, a partial tumor response was documented, with resolution of ascites, peritoneal implants, and portal vein thrombosis, achieving complete clinical remission after prolonged follow-up. Adverse effects were generally mild and manageable. Conclusion: Selective inhibition of the PI3K/AKT pathway with miransertib appears to slow lesion progression and improve function and quality of life in patients with Proteus syndrome, supporting the therapeutic potential of AKT inhibitors. Nevertheless, long-term studies with larger patient cohorts, evaluation of combination therapies, and identificatio…
subject: Literature Review
  topic: section
subject: Síndrome de Proteus
  topic: keywords
subject: inhibición de AKT
  topic: keywords
subject: Miransertib
  topic: keywords
subject: terapia dirigida
  topic: keywords
subject: review
  topic: keywords
creator: Rodrigo Olivas
creator: Gael Pérez
creator: Javier Peón
rights: Copyright (c) 2025 This journal uses a CC-BY-NC-ND license for all material published. https://creativecommons.org/licenses/by-nc-nd/4.0
date: 2025-12-31
publication date: 2025-12-31
starting page: 91
ending page: 95
doi: 10.37980/im.journal.ggcl.20252747

When Chromosome 15 Duplicates: A Clinical-Genetic Challenge
type: item
description: Background: Chromosome 15q11–q13 duplication syndrome (Dup15q) is a rare neurodevelopmental disorder caused by additional copies of a genomic region enriched in imprinted genes essential for normal neuronal function. It is commonly associated with autism spectrum disorder (ASD), epilepsy, hypotonia, global developmental delay, and intellectual disability. Case presentation: We report the case of a 31-year-old male with a longstanding history of refractory epilepsy, autism spectrum disorder, and intellectual disability. Genetic evaluation using array-comparative genomic hybridization (array-CGH) combined with single-nucleotide polymorphism (SNP) analysis identified a de novo interstitial heterozygous duplication of 10.03 Mb involving the 15q11.2–q13.3 region. The duplicated segment encompasses multiple genes with key roles in neurodevelopment, including UBE3A, GABRB3, GABRA5, SNRPN, and NDN. Parental testing by multiplex ligation-dependent probe amplification (MLPA) was negative, confirming a non-inherited origin. Establishing the molecular diagnosis allowed precise clinical classification, informed therapeutic decision-making, and enabled appropriate genetic counseling. Conclusion: This case illustrates the diagnostic value of array-CGH in patients with complex neurodevelopmental phenotypes and emphasizes the importance of early genetic assessment in individuals presenting with ASD and epilepsy. Identification of pathogenic copy number variants such as Dup15q has significant implications for prognosis, clinical management, and family counseling.
subject: Case report
  topic: section
subject: Dup15q syndrome
  topic: keywords
subject: Chromosome 15q11-q13
  topic: keywords
subject: Array-CGH
  topic: keywords
subject: Autism spectrum disorder
  topic: keywords
subject: Epilepsy
  topic: keywords
creator: Angel Sebastian García Morán
creator: Lina Johanna Moreno Giraldo
rights: Copyright (c) 2025 This journal uses a CC-BY-NC-ND license for all material published. https://creativecommons.org/licenses/by-nc-nd/4.0
date: 2025-12-31
publication date: 2025-12-31
starting page: 73
ending page: 79
doi: 10.37980/im.journal.ggcl.20252717

Phenotypic heterogeneity of Duplication Syndrome 22q11.2: relevance of genomic DNA analysis
type: item
description: Background: 22q11.2 duplication syndrome (22q11.2DupS) is a rare autosomal dominant disorder characterized by a broad spectrum of clinical manifestations, including intellectual disability, dysmorphic features, and congenital anomalies. The phenotypic heterogeneity of 22q11.2DupS complicates both clinical diagnosis and management. Traditional screening methods, such as fetal ultrasound, often fail to detect these abnormalities early, leading to delayed diagnoses however, advances in chromosomal microarray analysis (CMA) offer a promising opportunity to improve detection, particularly in high-risk pregnancies. Case presentation: This report describes a female patient with dysmorphic features, neurodevelopmental delay, and behavioral alterations, with no related family history or consanguinity. Genetic findings: The patient was diagnosed with 22q11.2DupS through genomic DNA analysis using the Agilent® SurePrint G3 Human CGH+SNP array, which identified a heterozygous interstitial duplication at chromosomal coordinates 22q11.22 affecting the TOP3B gene, currently not associated with any known pathology but implicated in genomic stability and cellular aging. Discussion: 22q11.2DupS is a rare chromosomal disorder with a wide phenotypic spectrum, including intellectual disability, dysmorphic features, and congenital anomalies despite increasing recognition, comprehensive descriptions of its full clinical spectrum remain limited, and similar duplications have been classified with varying degrees of pathogenicity in public databases. Conclusion: 22q11.2DupS represents a complex clinical challenge due to its broad phenotypic spectrum, and early detection through advanced genetic testing such as CGH+SNP microarray analysis, along with genetic counseling and therapies including cognitive-behavioral and speech therapy, is essential for effective management as no specific therapies are available, treatment remains symptomatic.
subject: Case report
  topic: section
subject: 22q11.2 duplication syndrome
  topic: keywords
subject: chromosomal microarray
  topic: keywords
subject: interstitial duplication
  topic: keywords
subject: TOP3B gene
  topic: keywords
creator: Maria Carolina Florez Polo
creator: Lina Johanna Moreno Giraldo
rights: Copyright (c) 2025 This journal uses a CC-BY-NC-ND license for all material published. https://creativecommons.org/licenses/by-nc-nd/4.0
date: 2025-12-31
publication date: 2025-12-31
starting page: 68
ending page: 72
doi: 10.37980/im.journal.ggcl.20252695

Prevalence of Metabolic Syndrome X in patients diagnosed with Chronic Kidney Disease undergoing dialysis
type: item
description: Introduction: Metabolic syndrome X (MSX) encompasses risk factors such as abdominal obesity, hypertension, dyslipidemia, and insulin resistance, which significantly increase cardiovascular morbidity and mortality. In patients with chronic kidney disease (CKD), the presence of MSX is even more relevant, as it accelerates disease progression and increases cardiovascular complications. A retrospective, descriptive study was conducted in which patients treated at the Hemodialysis Unit of Dr. Amador Guerrero Hospital were evaluated, and the presence of cardiovascular risk factors and components of MSX was quantified. Justification: Metabolic syndrome is highly prevalent in patients with chronic kidney disease and increases cardiovascular risk, making its identification essential to improve clinical outcomes. Methodology: Patients with chronic kidney disease undergoing dialysis in the province of Colón during 2005 were studied. Anthropometric and laboratory data were collected, and metabolic syndrome was diagnosed according to the NCEP/ATP III (2005) criteria. Data analysis was performed using EPI-INFO 6.0. Results: A prevalence of 23.7% of MSX was observed among patients treated at the unit. Of these patients, 88.9% presented abdominal obesity and arterial hypertension. However, only abdominal obesity and insulin resistance (measured as fasting hyperglycemia) were statistically significant for the presence of MSX in CKD patients, with reported ORs of 38.4 (95% CI: 3.88–379.70, p<0.05) and 6.28 (95% CI: 1.23–31.95, p<0.05), respectively. Conclusion: The prevalence of MSX in the studied population was 23.7%. Abdominal obesity and insulin resistance significantly increased the likelihood of MSX. Furthermore, current evidence suggests that genetic variants may predispose CKD patients to the development of MSX, opening new avenues for research.
subject: Original research
  topic: section
subject: Metabolic Syndrome X
  topic: keywords
subject: abdominal obesityinsulin resistance
  topic: keywords
subject: chronic kidney disease
  topic: keywords
subject: genetics
  topic: keywords
creator: Jorge David Mendez-Rios
rights: Copyright (c) 2025 This journal uses a CC-BY-NC-ND license for all material published. https://creativecommons.org/licenses/by-nc-nd/4.0
date: 2025-08-31
publication date: 2025-08-31
starting page: 43
ending page: 51
doi: 10.37980/im.journal.ggcl.20252691

Towards clinical genomics in Mexico: History and proposals
type: item
description: Clinical genomics is an essential tool for the diagnosis and management of genetic disorders; however, its development in Mexico has been limited and uneven. Despite recent progress, such as the establishment of new medical genetics residency programs and specialized clinical units, services remain highly centralized and diagnostic infrastructure is scarce. Most hospitals lack in-house genetic laboratories, forcing reliance on private or foreign services that are often prohibitively expensive, creating significant barriers for patients. Furthermore, there is a shortage of clinical geneticists and available positions in the public health system, contributing to a considerable lag in care. Initiatives such as the National Rare Disease Registry and the efforts of patient advocacy organizations (e.g., FEMEXER, AMAER, ANER) have increased visibility and support for individuals with genetic and rare diseases, but they cannot fully address the wide spectrum of conditions, particularly ultra-rare disorders. To overcome these challenges, five key priorities are proposed: strengthening public genomic diagnostic infrastructure, decentralizing clinical services, expanding training programs and job opportunities for clinical geneticists, consolidating a standardized national rare disease registry, and reinforcing collaboration between institutions and civil society. These actions are fundamental to ensuring the constitutional right to health and advancing equitable access to genomic medicine in Mexico.
subject: Perspectives
  topic: section
subject: education
  topic: keywords
subject: proposals
  topic: keywords
subject: clinical genomics
  topic: keywords
subject: Mexico
  topic: keywords
creator: Luis Leonardo Flores-Lagunes
rights: Copyright (c) 2025 This journal uses a CC-BY-NC-ND license for all material published. https://creativecommons.org/licenses/by-nc-nd/4.0
date: 2025-08-31
publication date: 2025-08-31
starting page: 40
ending page: 42
doi: 10.37980/im.journal.ggcl.20252690

Progress and Perspectives of Genetic Diagnosis in Panama
type: item
description: Genetic diagnosis in the field of medical genetics, which dates back to the pioneering efforts of Dr. John R. Ward, has experienced remarkable progress in Panama in recent years due to increased capacity, the growing number of specialized Panamanian professionals, and the development of all aspects related to this field within institutions such as the Social Security Fund, the Children's Hospital, the Gorgas Institute, and the INDICASAT Institute, among others. There has also been an increase in private offerings and industry support. The prospects for growth go hand in hand with the growing need for medical evaluation by geneticists, genetic diagnosis as part of the daily medical management of all specialties, and the short-term advent of personalized or precision medicine.
subject: Perspectives
  topic: section
subject: perspectives
  topic: keywords
subject: progress
  topic: keywords
subject: Panama
  topic: keywords
creator: Enrique Daniel Austin-Ward
rights: Copyright (c) 2025 This journal uses a CC-BY-NC-ND license for all material published. https://creativecommons.org/licenses/by-nc-nd/4.0
date: 2025-08-31
publication date: 2025-08-31
starting page: 38
ending page: 39
doi: 10.37980/im.journal.ggcl.20252689

Advances in genetic diagnosis in Colombia
type: item
description: In Colombia, genetic diagnosis has advanced significantly over the past two decades, establishing itself as a key tool for prevention, early detection, and personalized medicine. The legal framework, including the Statutory Health Law, Resolution 5267 of 2017, and Law 1392, has ensured equitable access to genetic testing through the Health Benefits Plan. The country has incorporated massive sequencing technologies, genetic telemedicine, and clinical applications in oncology, pediatrics, and infectious diseases. However, challenges remain regarding infrastructure distribution, specialist training, administrative barriers, and specific regulation of genomic data. The consolidation of a national genomic medicine system and the integration of population databases stand out as strategic priorities to strengthen research and public health.
subject: Letter to the Editor
  topic: section
subject: genomic médicine
  topic: keywords
subject: genetic diagnosis
  topic: keywords
subject: Colombia
  topic: keywords
creator: Carolina Rivera
rights: Copyright (c) 2025 This journal uses a CC-BY-NC-ND license for all material published. https://creativecommons.org/licenses/by-nc-nd/4.0
date: 2025-08-31
publication date: 2025-08-31
starting page: 33
ending page: 34
doi: 10.37980/im.journal.ggcl.20252688

Editorial - Regional cooperation and integration for the advancement of genetics and clinical genomics
type: item
description: Clinical genetics in Latin America has experienced significant growth driven by the incorporation of molecular and cytogenetic technologies, as well as new therapeutic alternatives. This process has been accompanied by professional training and collaborative efforts aimed at consolidating precision diagnostic services. In this issue of the Genetics and Clinical Genomics Journal, contributions from experts across several countries highlight advances and challenges in the region. Among them are the implementation of legislative frameworks, the strengthening of local diagnostic capacities, and the need to expand public health services. The issue also includes original studies addressing the relationship between metabolic syndrome and chronic kidney disease in hemodialysis patients, along with an analysis of gene structure and regulatory elements with direct implications for clinical practice. Taken together, these contributions reflect the achievements and current challenges of clinical genetics in Latin America and its role in advancing precision medicine.
subject: Editorial
  topic: section
subject: editorial
  topic: keywords
subject: perspectives
  topic: keywords
subject: regional integration
  topic: keywords
creator: Jorge David Mendez-Rios
rights: Copyright (c) 2025 This journal uses a CC-BY-NC-ND license for all material published. https://creativecommons.org/licenses/by-nc-nd/4.0
date: 2025-08-31
publication date: 2025-08-31
starting page: 31
ending page: 32
doi: 10.37980/im.journal.ggcl.20252686

The Landscape of Clinical Genetics in Honduras, Central America
type: item
description: In Honduras, clinical genetics is still at an early stage of development despite the country’s rich genetic diversity and important research contributions from isolated academic groups. Distinct populations, such as Indigenous communities and the Afro-descendant Garifuna, illustrate unique genetic profiles and founder effects with direct public health relevance. However, the practice of clinical genetics in Honduras faces major barriers, including the absence of nationally trained specialists, limited diagnostic capacity, lack of neonatal screening legislation, and the absence of registries for genetic diseases. Recent initiatives, including civil society advocacy and the planned COCINH LAB-Honduras project, signal opportunities to advance diagnostics, research, and training. To fully realize this potential, Honduras must invest in human resources, establish legal and ethical frameworks, and foster regional and international collaborations. Strengthening clinical genetics is essential for Honduras to address its population’s health needs and to ensure equitable access to modern genomic medicine.
subject: Perspectives
  topic: section
subject: Clinical genetics
  topic: keywords
subject: Honduras
  topic: keywords
subject: Genetic diversity
  topic: keywords
creator: Edwin Francisco Herrera-Paz
creator: Delmy Aracely Mejía-Mejía
rights: Copyright (c) 2025 This journal uses a CC-BY-NC-ND license for all material published. https://creativecommons.org/licenses/by-nc-nd/4.0
date: 2025-08-31
publication date: 2025-08-31
starting page: 35
ending page: 37
doi: 10.37980/im.journal.ggcl.20252685

Structure of a gene and its control elements
type: item
description: Knowledge of the structure, regulation, and function of genes is a fundamental pillar of molecular biology and modern medicine. Genes are DNA sequences that contain the information necessary to produce functional proteins or RNA, and are not only made up of coding regions (exons), but also introns and regulatory elements such as promoters, enhancers, and silencers. Mutations in any of these regions can alter normal cellular function and lead to various diseases. The regulation of gene expression ensures that not all genes are activated at the same time, but rather in a controlled manner depending on the cell type, stage of development, or environmental conditions. This control is mediated by transcription factors, epigenetic modifications such as DNA methylation, and the action of non-coding RNAs, mechanisms that allow multiple specialized cell types to be generated from the same DNA sequence. The function of genes is reflected in the products they encode, whether proteins or RNA, which participate in vital processes such as metabolism, cell signaling, or DNA repair. Genetic variants can cause loss of function, as in the case of cystic fibrosis due to mutations in the CFTR gene, or gain of function, as occurs in certain oncogenes involved in cancer.
subject: Literature Review
  topic: section
subject: genes
  topic: keywords
subject: clinical applications
  topic: keywords
subject: literature review
  topic: keywords
creator: Ana Laura Garcia
creator: Kevin Chung
creator: Karen Hou
creator: Stephania Hylton
creator: José Mosquera
creator: Crital Zhang
rights: Copyright (c) 2025 This journal uses a CC-BY-NC-ND license for all material published. https://creativecommons.org/licenses/by-nc-nd/4.0
date: 2025-08-31
publication date: 2025-08-31
starting page: 52
ending page: 57
doi: 10.37980/im.journal.ggcl.20252684

Understanding Molecular and Genomic Pathophysiology: Key to Effective Molecular Diagnosis
type: item
description: In this issue, we present three original studies that address various rare genetic conditions. The first focuses on West syndrome and provides a detailed analysis of its diagnosis along with a proposed therapeutic approach to this complex condition. The study emphasizes the importance of early diagnosis and timely, appropriate intervention. Researchers from the Universidad de La Sabana in Chía, Colombia, have done an outstanding job highlighting key aspects of clinical management and listing the genes associated with this disorder. The second original study was conducted by the team at the Genomics Institute of the Social Security Fund in Panama. The report includes 78 cases and describes the variants found in the SERPINA1 gene, which is associated with alpha-1 antitrypsin deficiency due to proteolytic degradation. This work is of great importance as it represents one of the first studies of its kind in Panama and the region. The third original contribution, conducted by medical students, presents an analysis of the evidence listed in OMIM regarding the MTHFR gene, which has been linked to multiple conditions such as neural tube defects, schizophrenia, thrombosis, and abnormalities in homocysteine levels. This review highlights the most compelling evidence while also identifying gaps in our understanding of this gene and its clinical impact. The study was carried out by an enthusiastic group of students from the School of Medicine at the Interamerican University of Panama. Finally, a research group from the Chromomed Center in the Dominican Republic presents a case study and review of a rare instance of diploid/triploid mosaicism. An exhaustive investigation was conducted using multiple molecular, cytogenetic, and imaging methods. This study stands out for the complexity of the case and the richness of the descriptive evidence, making a significant contribution to the understanding of clinical genetics and genomics in our region. Undoubtedly, these contributions are…
subject: Editorial
  topic: section
subject: education
  topic: keywords
subject: personalized medicine
  topic: keywords
subject: molecular physiopathology
  topic: keywords
subject: Latin America
  topic: keywords
creator: Jorge D. Mendez Ríos
rights: Copyright (c) 2025 This journal uses a CC-BY-NC-ND license for all material published. https://creativecommons.org/licenses/by-nc-nd/4.0
date: 2025-04-30
publication date: 2025-04-30
starting page: 1
ending page: 2
doi: 10.37980/im.journal.ggcl.20252602

Evaluation and classification of articles related to the MTHFR gene and OMIM evidence.
type: item
description: Introduction: The MTHFR gene, located at 1p36.22, is involved in the conversion of homocysteine to methionine via folate metabolism, which is essential for DNA, RNA, and protein synthesis. Variants such as C677T and A1298C have been associated with neural tube defects, thrombosis, schizophrenia, and homocystinuria due to MTHFR deficiency—an autosomal recessive condition characterized by toxic accumulation of homocysteine. Methodology: A systematic search was conducted using the OMIM database. Tasks were distributed among team members to ensure validated content, collaborative writing, and consistent structure. Results: A total of 113 studies were identified: 11 case-control studies, 9 genetic association studies, 8 meta-analyses, 4 letters to the editor, 4 negative association studies, and only 2 cohort and 2 genomic studies. Mutations affect the activity of the MTHFR enzyme, leading to multisystem dysfunctions. Homocystinuria presents neurological, ocular, skeletal, and vascular manifestations. No conclusive evidence of haploinsufficiency or triplosensitivity was found according to ClinGen. Discussion: The literature shows sustained interest in MTHFR, although results are mixed. Functional variants may contribute to complex disorders, but epigenetic, environmental, and gene-gene interactions also play a role. The limited number of longitudinal and molecular studies restricts a comprehensive understanding of the gene. Conclusion: MTHFR is a key genetic marker in personalized medicine. The predominance of observational studies highlights the need to diversify methodological approaches and functionally validate its clinical role, encouraging genetic screening and preventive interventions with folate.
subject: Original research
  topic: section
subject: genes
  topic: keywords
subject: evidence
  topic: keywords
subject: clinic
  topic: keywords
subject: genomics
  topic: keywords
creator: Edith Movazeb
creator: Carlos Flores
creator: Rigoberto Ríos
creator: Sol Ríos
creator: Luis Fu
creator: Jorge D Mendez-Rios
rights: Copyright (c) 2025 This journal uses a CC-BY-NC-ND license for all material published. https://creativecommons.org/licenses/by-nc-nd/4.0
date: 2025-04-30
publication date: 2025-04-30
starting page: 18
ending page: 22
doi: 10.37980/im.journal.ggcl.20252599

First Reported Case Of Diploid/Triploid Mosaicism In The Dominican Republic
type: item
description: This study details the case of a one-year-old girl displaying significant overgrowth and bodily asymmetry, including right-side hemihypertrophy and delayed psychomotor development. A molar pregnancy was suspected during prenatal care, with postnatal evaluations revealing skeletal and cutaneous anomalies. Extensive genetic analysis uncovered a rare case of diploid/triploid mosaicism, evidenced by the coexistence of cells with both normal (46,XX) and abnormal (69,XXX) chromosomal compositions. This discovery is pivotal in elucidating the etiology of the clinical symptoms and emphasizes the critical role of thorough genetic counseling and comprehensive clinical management in the treatment of complex genetic disorders.
subject: Case report
  topic: section
subject: diploid/triploid mosaicism
  topic: keywords
subject: overgrowth syndrome
  topic: keywords
subject: hemihypertrophy
  topic: keywords
subject: psychomotor development delay
  topic: keywords
subject: pediatric genetics
  topic: keywords
creator: Katlin A. De La Rosa Poueriet
creator: Bary G. Bigay
rights: Copyright (c) 2025 This journal uses a CC-BY-NC-ND license for all material published. https://creativecommons.org/licenses/by-nc-nd/4.0
date: 2025-04-30
publication date: 2025-04-30
starting page: 23
ending page: 30
doi: 10.37980/im.journal.ggcl.20252558

A Genomic Revolution: Advancing Health and Knowledge in Latin America
type: item
description: Editorial: Pioneering Genetics and Genomics Research for Regional Progress As we enter the second year of the Genetics and Clinical Genomics Journal, there is much anticipation for the future of this field in the region. It’s remarkable to see how far we’ve come in such a short time. This journal was born from a vision to bring together the best of genetics and genomics research and make a meaningful impact on healthcare and education in our region. That vision is becoming a reality, thanks to the incredible contributions of our authors and the support of our readers. This issue features an impressive selection of articles that highlight the power of genomic research to transform lives. Our Case Reports section includes stories of rare and complex conditions where genetics has played a critical role: In Hypotonic syndrome as a manifestation of an ultra-rare disease caused by a novel de novo variant in the PLA2G6 gene, we see the intricate process of solving a diagnostic mystery and its profound implications for patient care. De novo variant in the COL1A1 gene associated with an orphan genetic disease: Type I osteogenesis imperfecta sheds light on a rare condition that challenges both families and clinicians but also presents opportunities for targeted treatments. De novo genetic variant in Epileptic Encephalopathy: The importance of specific diagnosis highlights how pinpointing a genetic cause can lead to more effective therapeutic strategies. Finally, Detection of a genetic variant in Apert syndrome examines a condition that, while rare, has significant developmental and therapeutic implications. Our Review Articles, Literature review and Advances and perspectives on genetic pathologies in the 21st century, provide valuable overviews of current trends and emerging possibilities, serving as essential guides for anyone engaged in genetic research or clinical practice. Why This Matters Genetics and genomics are no longer rare disciplines they’re reshaping how we under…
subject: Editorial
  topic: section
subject: genetics
  topic: keywords
subject: clinical genomics
  topic: keywords
subject: healthcare
  topic: keywords
subject: revolution
  topic: keywords
creator: Jorge David Méndez Ríos
rights: Copyright (c) 2024 This journal uses a CC-BY-NC-ND license for all material published. https://creativecommons.org/licenses/by-nc-nd/4.0
date: 2024-12-05
publication date: 2024-12-05
starting page: 94
ending page: 95
doi: 10.37980/im.journal.ggcl.20242495

Protease S and Z inhibitor genotypes in the SERPINA1 gene in patients with COPD in the Republic of Panama
type: item
description: Background: Alpha-1-Antitrypsin (AAT) is a protein that inhibits protease, especially Trypsin. AAT deficiency can cause lung diseases such as early emphysema, mainly affecting the Anglo-Saxon population; this was considered to be a rare condition in Panama. This study aimed to determine the prevalence of Alpha-1-Antitrypsin Deficiency (AATD) and allele frequency, in patients with COPD. Methods: Cross-sectional intervention study, in patients with COPD diagnosis in Panama. All patients’ AAT levels were determined with blood samples, by nephelometry. Those with AAT levels <116 mg/dL were subjected to genotyping with the real-time PCR test (AAT-mpx RealFast), which detects the protease inhibitor (PI) *M, *S y *Z of the SERPINA1 gene simultaneously. Results: 78 patients were included, 55 (70.5%) had AAT levels <116 mg/dL. The genotype distribution for these was as follows: PI*MM in 15 (27.3%), PI*MZ in 37 (67.3%), PI*MS in 2 (3.6%), and PI*SS in 1 (1,8%). Conclusion: Our findings demonstrate that AATD frequency is low in COPD patients. However, we have a high frequency of the heterozygous PI*MZ allele, which could be a future risk factor. Methods: Cross-sectional intervention study, in patients with COPD diagnosis in Panama. All patients’ AAT levels were determined with blood samples, by nephelometry. Those with AAT levels <116 mg/dL were subjected to genotyping with the real-time PCR test (AAT-mpx RealFast), which detects the protease inhibitor (PI) *M, *S y *Z of the SERPINA1 gene simultaneously. Results: 78 patients were included, 55 (70.5%) had AAT levels <116 mg/dL. The genotype distribution for these was as follows: PI*MM in 15 (27.3%), PI*MZ in 37 (67.3%), PI*MS in 2 (3.6%), and PI*SS in 1 (1,8%). Conclusion: Our findings demonstrate that AATD frequency is low in COPD patients. However, we have a high frequency of the heterozygous PI*MZ allele, which could be a future risk factor.
subject: Original research
  topic: section
subject: Alpha - 1 - Antitrypsin
  topic: keywords
subject: COPD
  topic: keywords
subject: Alpha - 1 - Antitrypsin Deficiency
  topic: keywords
subject: SERPINA1
  topic: keywords
subject: Alleles
  topic: keywords
creator: Lydier De Gracia
creator: Lorena Noriega
creator: Estefani Sánchez
creator: Luis Sotillo
creator: Aneth Samudio
creator: Omar Espinosa
rights: Copyright (c) 2024 This journal uses a CC-BY-NC license for all material published. https://www.infomedicintl.com/index.php/politicas-editoriales/
date: 2025-01-21
publication date: 2025-01-21
starting page: 11
ending page: 17
doi: 10.37980/im.journal.ggcl.20242468

Advances and Perspectives of Genetic Pathologies in the 21st century.
type: item
description: Introduction: The discovery of deoxyribonucleic acid in 1953 marks the difference between classical genetics that was based on clinical observation to make diagnoses and perform genomic modifications empirically, which triggered a series of genetic aberrations that compromise the dignity of the human being and the new genetics, an era that allowed understanding the starting point in the mechanisms of regulation and gene expression and its role when coding DNA which has allowed the study of diseases of genetic or hereditary origin and give a targeted treatment. The new genetics brings with it novel tools to objectify the alterations that occur either at the level of genes, chromosomes or multifactorial disorders and to be able to identify and classify them in a pertinent manner, simplifying the understanding of these pathologies. Objective: This article aims to keep the scientific community updated on the different genetic pathologies and their classification taking into account the nomenclature and key points of each one. Methodology: A review of scientific articles was performed in databases such as Pubmed, Web of Science, Dynamed and Uptodate, with search terms for artificial intelligence in medicine, clinical research, legal framework, bioethical principles, automated analysis, among others. No language restrictions were applied. Medical subject headings (MeSH) were used. Additionally, reference lists, review articles and grey literature were manually searched for relevant articles not captured in the electronic scan. Conclusion: Human genetics and its pathologies are of constant interest, since through its knowledge different DNA variants of the coding and replication process are explained, knowing the latest definitions covering the subject is of great importance for its understanding.
subject: Literature Review
  topic: section
subject: malformations
  topic: keywords
subject: genopathies
  topic: keywords
subject: chromosomopathies
  topic: keywords
subject: multifactorial disorders
  topic: keywords
creator: Paula Andrea Rodríguez Ocampo
creator: David Luna Salazar
creator: Karen Dayana Saavedra Pérez
creator: Daniela Lynett Flórez
creator: Luis Gustavo Celis Regalado
rights: Copyright (c) 2024 This journal uses a CC-BY-NC license for all material published. https://www.infomedicintl.com/index.php/politicas-editoriales/
date: 2024-11-28
publication date: 2024-11-28
starting page: 129
ending page: 144
doi: 10.37980/im.journal.ggcl.20242423

Detection of a genetic variant of Apert syndrome
type: item
description: Introduction: Apert syndrome (AS), or acrocephalosyndactyly type I, is an autosomal dominant congenital disorder caused by a mutation in the FGFR2 gene, essential during embryonic development. It is characterized by craniosynostosis, midface hypoplasia and syndactyly. Although rare, its incidence is 1/100,000 to 1/160,000 live births, with a prevalence of 1 to 9 cases per 100,000 persons. Prenatal diagnosis is complex due to its similarity to other congenital syndromes. Objective: This article analyzes the genetic and molecular characterization of a patient diagnosed with Apert syndrome. Methodology: Informed consent was obtained and a clinical history and physical examination were performed. Blood samples were collected for paraclinical and molecular tests, as well as imaging studies. Results: The results showed phenotypic characteristics compatible with the syndrome, such as strabismus, proptosis and anterior plagiocephaly-type craniosynostosis. Genetic studies detected a pathogenic variant in the FGFR2 gene (c.755C>G) and a variant of uncertain significance (c.532C>T). Discussion: The FGFR2 mutation (c.755C>G) is one of the most frequent in AS and is suggested to affect receptor specificity, leading to suppression of osteoblast apoptosis, resulting in the phenotypic features of the syndrome. Conclusion: Although the variant of uncertain significance (c.532C>T) has deleterious features, no other cases with this variant have been reported. Currently, the patient has not presented additional deterioration and the prognosis remains uncertain. Further molecular studies are considered necessary to investigate this new variant and its clinical implications.
subject: Case report
  topic: section
subject: Apert Syndrome
  topic: keywords
subject: Fibroblast growth factor
  topic: keywords
subject: Craniosynostosis
  topic: keywords
subject: Acrocephalosyndactyly
  topic: keywords
creator: Daniela Lynett
creator: María Paola Lubo López
creator: Laura Andrea Rojas Arbelaez
creator: Paula Andrea Rodríguez Ocampo
creator: Lev Bladimir Ramirez
creator: Daniel Jimenez
creator: Luis Gustavo Celis Regalado
creator: Nathalia Fonque Ojeda
creator: Gabriela García Montoya
rights: Copyright (c) 2024 This journal uses a CC-BY-NC license for all material published. https://www.infomedicintl.com/index.php/politicas-editoriales/
date: 2024-11-27
publication date: 2024-11-27
starting page: 119
ending page: 128
doi: 10.37980/im.journal.ggcl.20242459

West Syndrome: spectrum of disorders with diagnostic and therapeutic challenges
type: item
description: Introduction: West syndrome (WS) is a rare epileptic encephalopathy of multifactorial etiology, characterized by epileptic spasms, psychomotor delay, and hypsarrhythmia on electroencephalogram. Its prevalence is 1.5 to 2 per 10,000 children under 10 years, with an incidence of 1 per 2,000-4,000 live births. Objective: This article describes the clinical characteristics of a pediatric patient with WS in a developing country context. Materials and methods: With informed consent, the clinical history was performed, detecting psychomotor delay at 6 months, manifested by loss of social smile and gross motor skills. Physical examination revealed generalized hypotonia, desaturation, and bradycardia. Neuroimaging ruled out organic abnormalities; however, the electroencephalogram (EEG) showed hypsarrhythmia, confirming the diagnosis of West syndrome by meeting the classic clinical triad. Results and discussion: Male patient of 6 months, firstborn, born by cesarean section at 39 weeks due to hypoxic encephalopathy, with negative STORCH and toxicological tests. He presented to the emergency room with four episodes of spastic movements in the upper limbs, which spontaneously resolved without loss of consciousness, during the previous month. Currently, at 12 years old, the patient is in remission, without seizure episodes for over 10 years. He shows adequate social and family adaptation, with academic performance appropriate for his age group. Cognitive tests indicate borderline performance, suggesting the presence of ADHD, with no evidence of underlying cognitive deficit.
subject: Original research
  topic: section
subject: West Syndrome
  topic: keywords
subject: epileptic encephalopathy
  topic: keywords
subject: childhood epilepsy
  topic: keywords
subject: neurodevelopmental delay
  topic: keywords
creator: Daniela Lynett Flórez
creator: Laura Andrea Rojas Buitrago
creator: María Paola Lubo López
creator: Laura Andrea Rojas Arbelaez
creator: María Alejandra Guardiola Riveros
creator: Paula Andrea Rodríguez Ocampo
creator: Nathalia Fonque Ojeda
creator: Maria Ximena Arteaga Pichardo
creator: Felipe Bernate Urrea
creator: Luis Gustavo Celis Regalado
rights: Copyright (c) 2024 This journal uses a CC-BY-NC license for all material published. https://www.infomedicintl.com/index.php/politicas-editoriales/
date: 2024-12-16
publication date: 2024-12-16
starting page: 3
ending page: 10
doi: 10.37980/im.journal.ggcl.20242430

Editorial Team - Vol 2 Num 2 2024
type: item
description: Editorial work The following team of professionals from different health areas participated in the preparation of this issue. Dr. Jorge D. Méndez-Ríos, MD, MS, PhD. Hospital Université Laval, Québec, Canadá Dr. Luis Gustavo Celis, MSc. Universidad de La Sabana, Chía, Colombia Dr. Carolina Rivera Nieto, MD, MSc Bogotá, Colombia Dr. Ricardo Fernández-Ramires, PhD Genetic Counselor. Grupo Chileno de Cáncer Hereditario (GCCH) Rosamaria Mora, Arch, MSc. Cordination Editorial Infomedic International Consultorios Médicos Paitilla #430 Panama, Rep. of Panama Published for the Collaborative Network for Genetics and Clinical Genomics. First edition: June 2023. Current edition: August 2024. eISSN L 3072-9610 (English) This publication is distributed under the CC-BY-SA license.
subject: Editorial Board
  topic: section
subject: editorial board
  topic: keywords
creator: Journal Genetics and Clinical Genomics
rights: Copyright (c) 2024 This journal uses a CC-BY-NC license for all material published. https://www.infomedicintl.com/index.php/politicas-editoriales/
date: 2024-08-31
publication date: 2024-08-31

Chromoanagenesis and Erythroderma as diagnostic clues in a critically ill patient
type: item
description: We report the case of a patient with severe multisystemic failure in which massive chromosomal changes in mosaic state were detected, which are considered to be associated with the possible underlying pathology: a T-cell lymphoproliferative syndrome. The patient also presented a case of Erythroderma of unknown cause several years earlier, with a progressive decline in her physical condition. The spectrum of clinical manifestations is then presented as a nonspecific paraneoplastic cutaneous picture of several years of evolution and findings of chromoanagenesis in the last phase of a lymphoproliferative morbid process. The new techniques of genetic analysis make it possible to obtain data to clarify the diagnostic processes and to identify a serious disorganization of the genetic information considered to be responsible for neoplastic changes.
subject: Case report
  topic: section
subject: chromoanagenesis
  topic: keywords
subject: cancer
  topic: keywords
subject: oncogenetics
  topic: keywords
subject: lymphoproliferative process
  topic: keywords
subject: erythroderma
  topic: keywords
subject: paraneoplasia
  topic: keywords
creator: Enrique Daniel Austin-Ward
creator: Nicolás Hurtado
creator: Nelson Santamaría
creator: Alexis Pinto
creator: German Espino
rights: Copyright (c) 2024 This journal uses a CC-BY-NC license for all material published. https://www.infomedicintl.com/index.php/licencia-cc-by-sa/
date: 2024-08-31
publication date: 2024-08-31
starting page: 63
ending page: 73
doi: 10.37980/im.journal.ggcl.20242414

De novo genetic variant in epileptic encephalopathy: Importance of specific diagnosis
type: item
description: Introduction: Early infantile epileptic encephalopathies (EIEE) are rare syndromes that affect neurological development. The etiology has been uncertain for a long time, but advances in genetics have identified numerous associated genes. Variants in the CYFIP2 gene have been linked to EIEE. Clinical case: An 11-year-old female born at term without complications, with microcephaly, synophrys, and short neck. No relevant family history. At one month, she developed generalized seizures and delayed neurodevelopment, progressing to severe spastic quadriparesis, requiring gastrostomy and tracheostomy, with paroxysmal discharges on electroencephalogram. She received multiple anticonvulsant medications and ketogenic therapy. Complete individual exome sequencing and analysis of deletions and duplications were requested. Individual complete exome + deletions and duplications analysis (CNV) identified a probably pathogenic heterozygous variant in the CYFIP2 gene variant c.259C>T (p.Arg87Cys) missense type, allelic ratio (VAF) 0.45. The results of this molecular study support the diagnosis of developmental and epileptic encephalopathy de novo. Discussion: Developmental and epileptic encephalopathy (EED) disorders are severe conditions that begin in childhood, characterized by epileptic seizures, abnormalities in the electroencephalogram, and deterioration of neurodevelopment. Genetic EEDs are associated with variants in various genes related to cellular and neuronal functions. The CYFIP2 gene, on chromosome 5q33.3, encodes protein 2 that interacts with FMRP (fragile X mental retardation protein), playing a crucial role in neurological development. De novo variants, such as nonsense mutations and truncation in CYFIP2, are associated with intellectual disability, seizures, and muscle hypotonia. Advancements in genomics are improving the understanding of epilepsy, impacting targeted treatment, prognosis, and patient counseling. Childhood epilepsy has a heterogeneous genetic basis,…
subject: Case report
  topic: section
subject: early infantil epileptic encephalophathy
  topic: keywords
subject: CYFIP2 gene
  topic: keywords
subject: whole exome sequencing
  topic: keywords
subject: precision medicine
  topic: keywords
creator: Johana Marcela Morán Fernández
creator: Lina Johanna Moreno Giraldo
rights: Copyright (c) 2024 This journal uses a CC-BY-NC license for all material published. https://www.infomedicintl.com/index.php/politicas-editoriales/
date: 2024-11-25
publication date: 2024-11-25
starting page: 112
ending page: 118
doi: 10.37980/im.journal.ggcl.20242381