Aim: to describe genetic features of five unrelated Thai families with infantile-onset Pompe disease caused by mutations in the acid α-glucosidase (GAA) gene.
Methods: total RNA and genomic DNA were extracted from peripheral blood leukocytes, and mutation analysis of the entire coding regions of the GAA gene was performed in our first patient. Polymerase chain reaction-restriction fragment length polymorphism analysis was also used for a particular mutation in subsequent patients.
Results: the mutation analysis revealed that all patients harbored the same mutation, c.1935C > A (p.D645E), with three being homozygotes. The p.D645E, therefore, accounted for 80% (8 out of 10 alleles) of the mutations.
Conclusions: we identified five unrelated Thai patients with infantile-onset Pompe disease with no history of consanguinity. Finding of the most common mutation, p.D645E, in this study will help facilitate prenatal diagnosis of their family members and molecular diagnosis of future suspected patients. Analysis of common mutations could be the most effective strategy in identifying GAA mutations responsible for Pompe disease in the Thai population.