{Reference Type}: Journal Article
{Title}: Mutational spectrum and genotype-phenotype correlation in Mexican patients with infantile-onset and late-onset Pompe disease.
{Author}: 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;Diaz-Martinez R;
{Journal}: Mol Genet Genomic Med
{Volume}: 12
{Issue}: 7
{Year}: 2024 Jul
{Factor}: 2.473
{DOI}: 10.1002/mgg3.2480
{Abstract}: <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.