Mutational spectrum and genotype-phenotype correlation in Mexican patients with infantile-onset and late-onset Pompe disease.
Mol Genet Genomic Med
; 12(7): e2480, 2024 Jul.
Article
in En
| MEDLINE
| ID: mdl-38958145
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.Key words
Full text:
1
Collection:
01-internacional
Database:
MEDLINE
Main subject:
Glycogen Storage Disease Type II
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Age of Onset
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Alpha-Glucosidases
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Mutation
Limits:
Adolescent
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Adult
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Child
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Child, preschool
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Female
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Humans
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Infant
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Male
Country/Region as subject:
Mexico
Language:
En
Journal:
Mol Genet Genomic Med
Year:
2024
Document type:
Article
Affiliation country:
Country of publication: