Valentina Martinez-Montoya, Luz María Sánchez-Sánchez, Roberto Sandoval-Pacheco, Diana Mónica Anaya Castro, Carmen Araceli Arellano-Valdez, Carmen Amor Ávila-Rejón, Pedro Alejandro Aguilar-Juárez, Martín Espino-Pluma, Cruz Antonio González-Santillanes, Rosa Isela Martínez-Segovia, Dorian Olmos-Morfin, Ofelia Padilla-De la Torre, Ishar Solís-Sánchez, Mónica Vázquez-Del Mercado Espinosa, Camilo Ernesto Villarroel-Cortés, Jesús Salvador Velarde-Félix, Jaime López-Valdez, Julio Olaiz-Urbina, Edgar Ricárdez-Marcial, Imelda Vergara-Sánchez, Pablo Radillo-Díaz, Ekaterina Kazakova, Beatriz De la Fuente-Cortez, Luz Del Carmen Marquez-Quiróz, Benjamín Torres-Octavo, Rubicel Diaz-Martinez
{"title":"Mutational spectrum and genotype-phenotype correlation in Mexican patients with infantile-onset and late-onset Pompe disease.","authors":"Valentina Martinez-Montoya, Luz María Sánchez-Sánchez, Roberto Sandoval-Pacheco, Diana Mónica Anaya Castro, Carmen Araceli Arellano-Valdez, Carmen Amor Ávila-Rejón, Pedro Alejandro Aguilar-Juárez, Martín Espino-Pluma, Cruz Antonio González-Santillanes, Rosa Isela Martínez-Segovia, Dorian Olmos-Morfin, Ofelia Padilla-De la Torre, Ishar Solís-Sánchez, Mónica Vázquez-Del Mercado Espinosa, Camilo Ernesto Villarroel-Cortés, Jesús Salvador Velarde-Félix, Jaime López-Valdez, Julio Olaiz-Urbina, Edgar Ricárdez-Marcial, Imelda Vergara-Sánchez, Pablo Radillo-Díaz, Ekaterina Kazakova, Beatriz De la Fuente-Cortez, Luz Del Carmen Marquez-Quiróz, Benjamín Torres-Octavo, Rubicel Diaz-Martinez","doi":"10.1002/mgg3.2480","DOIUrl":null,"url":null,"abstract":"<p><strong>Background: </strong>Pompe Disease (PD) is a metabolic myopathy caused by variants in the GAA gene, resulting in deficient enzymatic activity. We aimed to characterize the clinical features and related genetic variants in a series of Mexican patients.</p><p><strong>Methods: </strong>We performed a retrospective study of clinical records of patients diagnosed with LOPD, IOPD or pseudodeficiency.</p><p><strong>Results: </strong>Twenty-nine patients were included in the study, comprising these three forms. Overall, age of symptom onset was 0.1 to 43 years old. The most frequent variant identified was c.-32-13T>G, which was detected in 14 alleles. Among the 23 different variants identified in the GAA gene, 14 were classified as pathogenic, 5 were likely pathogenic, and 1 was a variant of uncertain significance. Two variants were inherited in cis arrangement and 2 were pseudodeficiency-related benign alleles. We identified two novel variants (c.1615 G>A and c.1076-20_1076-4delAAGTCGGCGTTGGCCTG).</p><p><strong>Conclusion: </strong>To the best of our knowledge, this series represent the largest phenotypic and genotypic characterization of patients with PD in Mexico. Patients within our series exhibited a combination of LOPD and IOPD associated variants, which may be related to genetic diversity within Mexican population. Further population-wide studies are required to better characterize the incidence of this disease in Mexican population.</p>","PeriodicalId":18852,"journal":{"name":"Molecular Genetics & Genomic Medicine","volume":null,"pages":null},"PeriodicalIF":1.5000,"publicationDate":"2024-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11220502/pdf/","citationCount":"0","resultStr":null,"platform":"Semanticscholar","paperid":null,"PeriodicalName":"Molecular Genetics & Genomic Medicine","FirstCategoryId":"3","ListUrlMain":"https://doi.org/10.1002/mgg3.2480","RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q4","JCRName":"GENETICS & HEREDITY","Score":null,"Total":0}
引用次数: 0
Abstract
Background: Pompe Disease (PD) is a metabolic myopathy caused by variants in the GAA gene, resulting in deficient enzymatic activity. We aimed to characterize the clinical features and related genetic variants in a series of Mexican patients.
Methods: We performed a retrospective study of clinical records of patients diagnosed with LOPD, IOPD or pseudodeficiency.
Results: Twenty-nine patients were included in the study, comprising these three forms. Overall, age of symptom onset was 0.1 to 43 years old. The most frequent variant identified was c.-32-13T>G, which was detected in 14 alleles. Among the 23 different variants identified in the GAA gene, 14 were classified as pathogenic, 5 were likely pathogenic, and 1 was a variant of uncertain significance. Two variants were inherited in cis arrangement and 2 were pseudodeficiency-related benign alleles. We identified two novel variants (c.1615 G>A and c.1076-20_1076-4delAAGTCGGCGTTGGCCTG).
Conclusion: To the best of our knowledge, this series represent the largest phenotypic and genotypic characterization of patients with PD in Mexico. Patients within our series exhibited a combination of LOPD and IOPD associated variants, which may be related to genetic diversity within Mexican population. Further population-wide studies are required to better characterize the incidence of this disease in Mexican population.
期刊介绍:
Molecular Genetics & Genomic Medicine is a peer-reviewed journal for rapid dissemination of quality research related to the dynamically developing areas of human, molecular and medical genetics. The journal publishes original research articles covering findings in phenotypic, molecular, biological, and genomic aspects of genomic variation, inherited disorders and birth defects. The broad publishing spectrum of Molecular Genetics & Genomic Medicine includes rare and common disorders from diagnosis to treatment. Examples of appropriate articles include reports of novel disease genes, functional studies of genetic variants, in-depth genotype-phenotype studies, genomic analysis of inherited disorders, molecular diagnostic methods, medical bioinformatics, ethical, legal, and social implications (ELSI), and approaches to clinical diagnosis. Molecular Genetics & Genomic Medicine provides a scientific home for next generation sequencing studies of rare and common disorders, which will make research in this fascinating area easily and rapidly accessible to the scientific community. This will serve as the basis for translating next generation sequencing studies into individualized diagnostics and therapeutics, for day-to-day medical care.
Molecular Genetics & Genomic Medicine publishes original research articles, reviews, and research methods papers, along with invited editorials and commentaries. Original research papers must report well-conducted research with conclusions supported by the data presented.