Circulation Journal
Online ISSN : 1347-4820
Print ISSN : 1346-9843
ISSN-L : 1346-9843
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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
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2008 Volume 72 Issue 10 Pages 1705-1706

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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)

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© 2008 THE JAPANESE CIRCULATION SOCIETY
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