%0 Journal Article
%T Mutational spectrum and genotype-phenotype correlation in Mexican patients with infantile-onset and late-onset Pompe disease.
%A Martinez-Montoya V
%A Sánchez-Sánchez LM
%A Sandoval-Pacheco R
%A Castro DMA
%A Arellano-Valdez CA
%A Ávila-Rejón CA
%A Aguilar-Juárez PA
%A Espino-Pluma M
%A González-Santillanes CA
%A Martínez-Segovia RI
%A Olmos-Morfin D
%A la Torre OP
%A Solís-Sánchez I
%A Espinosa MVM
%A Villarroel-Cortés CE
%A Velarde-Félix JS
%A López-Valdez J
%A Olaiz-Urbina J
%A Ricárdez-Marcial E
%A Vergara-Sánchez I
%A Radillo-Díaz P
%A Kazakova E
%A De la Fuente-Cortez B
%A Del Carmen Marquez-Quiróz L
%A Torres-Octavo B
%A Diaz-Martinez R
%J Mol Genet Genomic Med
%V 12
%N 7
%D 2024 Jul
%M 38958145
%F 2.473
%R 10.1002/mgg3.2480
%X <B>BACKGROUND: </B>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.<BR><B>METHODS: </B>We performed a retrospective study of clinical records of patients diagnosed with LOPD, IOPD or pseudodeficiency.<BR><B>RESULTS: </B>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).<BR><B>CONCLUSIONS: </B>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.