1. Mutational spectrum and genotype-phenotype correlation in Mexican patients with infantile-onset and late-onset Pompe disease.
- Author
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Martinez-Montoya V, Sánchez-Sánchez LM, Sandoval-Pacheco R, Castro DMA, Arellano-Valdez CA, Ávila-Rejón CA, Aguilar-Juárez PA, Espino-Pluma M, González-Santillanes CA, Martínez-Segovia RI, Olmos-Morfin D, la Torre OP, Solís-Sánchez I, Espinosa MVM, Villarroel-Cortés CE, Velarde-Félix JS, López-Valdez J, Olaiz-Urbina J, Ricárdez-Marcial E, Vergara-Sánchez I, Radillo-Díaz P, Kazakova E, De la Fuente-Cortez B, Del Carmen Marquez-Quiróz L, Torres-Octavo B, and Diaz-Martinez R
- Subjects
- Humans, Male, Female, Child, Preschool, Child, Adult, Infant, Mexico epidemiology, Adolescent, Phenotype, Retrospective Studies, Genetic Association Studies, Alleles, Young Adult, Glycogen Storage Disease Type II genetics, Glycogen Storage Disease Type II pathology, alpha-Glucosidases genetics, Mutation, Age of Onset
- 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., (© 2024 The Author(s). Molecular Genetics & Genomic Medicine published by Wiley Periodicals LLC.)
- Published
- 2024
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