title: 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.
authors.affiliation: Department of Cardiovascular Medicine, Kyoto University Graduate School of Medicine, Kyoto, Japan.
authors.forename: Takeru
authors.initials: T
authors.lastname: Makiyama
authors.forename: Masaharu
authors.initials: M
authors.lastname: Akao
authors.forename: Yoshisumi
authors.initials: Y
authors.lastname: Haruna
authors.forename: Keiko
authors.initials: K
authors.lastname: Tsuji
authors.forename: Takahiro
authors.initials: T
authors.lastname: Doi
authors.forename: Seiko
authors.initials: S
authors.lastname: Ohno
authors.forename: Yukiko
authors.initials: Y
authors.lastname: Nishio
authors.forename: Toru
authors.initials: T
authors.lastname: Kita
authors.forename: Minoru
authors.initials: M
authors.lastname: Horie