Mutation Analysis of the Glycerol-3 Phosphate Dehydrogenase-1 Like (GPD1L) Gene in Japanese Patients With Brugada Syndrome

Abstract

Brugada syndrome is an inherited arrhythmic disorder, and mutations in the SCN5A gene, encoding cardiac sodium channels, are identified in approximately 15% of cases. A novel causative gene (glycerol-3 phosphate dehydrogenase-1 like; GPD1L) has been reported, and in the present study, 80 unrelated Japanese patients were screened for GPD1L mutations: 1 synonymous mutation was identified, as well as 1 intronic variant, both of which were absent in 220 control alleles. Additionally, a single-nucleotide polymorphism was detected in 4 patients. No non-synonymous mutations were found. GPD1L does not appear to be a major cause of Brugada syndrome in the Japanese population.