Whole-exome sequencing of the proband with atypical IOPD
This study performed whole-exome sequencing (WES) on a 5-month-old Chinese female proband with atypical infantile-onset Pompe disease (IOPD), presenting with isolated cardiomyopathy mimicking endocardial fibroelastosis (EFE). We identified two novel compound heterozygous variants in the GAA gene (NM_000152.4): c.1465G>A (p.Asp489Asn) and c.2636T>C (p.Leu879Pro). Sanger sequencing was used to confirm the variants and their segregation in the proband's asymptomatic non-consanguineous parents. This study aims to expand the genotypic and phenotypic spectrum of atypical IOPD in the Chinese population.