Mutational spectrum and genotype-phenotype correlation in Mexican patients with infantile-onset and late-onset Pompe disease.
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Martinez-Montoya Valentina, Sánchez-Sánchez Luz María, Sandoval-Pacheco Roberto, Castro Diana Mónica Anaya, Arellano-Valdez Carmen Araceli, Ávila-Rejón Carmen Amor, Aguilar-Juárez Pedro Alejandro, Espino-Pluma Martín, González-Santillanes Cruz Antonio, Martínez-Segovia Rosa Isela, Olmos-Morfin Dorian, la Torre Ofelia Padilla-De, Solís-Sánchez Ishar, Espinosa Mónica Vázquez-Del Mercado, Villarroel-Cortés Camilo Ernesto, Velarde-Félix Jesús Salvador, López-Valdez Jaime, Olaiz-Urbina Julio, Ricárdez-Marcial Edgar, Vergara-Sánchez Imelda, Radillo-Díaz Pablo, Kazakova Ekaterina, De la Fuente-Cortez Beatriz, Del Carmen Marquez-Quiróz Luz, Torres-Octavo Benjamín, Diaz-Martinez Rubicel
Аннотация
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.