Circulation Journal
Online ISSN : 1347-4820
Print ISSN : 1346-9843
ISSN-L : 1346-9843
Rapid Communication
Mutation Analysis of the Glycerol-3 Phosphate Dehydrogenase-1 Like (GPD1L) Gene in Japanese Patients With Brugada Syndrome
Takeru MakiyamaMasaharu AkaoYoshisumi HarunaKeiko TsujiTakahiro DoiSeiko OhnoYukiko NishioToru KitaMinoru Horie
Author information
JOURNAL FREE ACCESS

2008 Volume 72 Issue 10 Pages 1705-1706

Details
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. (Circ J 2008; 72: 1705 - 1706)

Information related to the author
© 2008 THE JAPANESE CIRCULATION SOCIETY
Previous article Next article
feedback
Top