Referenced in: none

Automatically associated channels: Nav1.5

Title: Genetic analysis of Brugada syndrome in Western Japan: two novel mutations.

Authors: Hideya Niimura, Akira Matsunaga, Koichiro Kumagai, Kazuo Ohwaki, Masahiro Ogawa, Hiroo Noguchi, Kazue Yonemura, Keijiro Saku

Journal, date & volume: Circ. J., 2004 Aug , 68, 740-6

PubMed link: http://www.ncbi.nlm.nih.gov/pubmed/15277732

Abstract
Brugada syndrome is a form of idiopathic ventricular fibrillation characterized by right bundle-branch block pattern and ST elevation in the right precordial leads of the ECG. The SCN5A gene encodes the alpha-subunit of the human heart sodium channel, which plays a critical role in cardiac excitability, and mutations of SCN5A could underlie Brugada syndrome.To detect mutations of SCN5A, DNA samples from 12 Japanese patients with Brugada syndrome were analyzed using direct sequencing. Two patients had novel mutations, G292S and S835L, but no other mutations of SCN5A were detected in the remaining patients. The first mutation, G292S, was identified adjacent to the pore-lining region between the DIS5 and DIS6 transmembrane segments of SCN5A, and the second mutation, S835L, was in the intracellular loop connecting the DIIS4 to DIIS5. Both mutations were not detected in 100 unrelated control subjects.Two novel SCN5A mutations have been found in Japanese patients with Brugada syndrome.