Referenced in: none

Automatically associated channels: Nav1.5

Title: New familial heterozygous c 4066_4068 delTT 2 bp deletion of the SCN5A gene causing Brugada syndrome.

Authors: Sven Möbius-Winkler, Ingo Dähnert, Gerhard Hindricks, Gerhard Schuler, Volker Adams

Journal, date & volume: Heart Rhythm, 2011 Aug , 8, 1224-7

PubMed link: http://www.ncbi.nlm.nih.gov/pubmed/21397042

Abstract
Cardiac sodium channel alterations have been identified as the underlying condition in patients with Brugada syndrome.This study identified a novel mutation of the SCN5A gene in a family with Brugada syndrome.Blood was drawn from the children and mother for genetic analysis. All exons of the SCN5A gene were amplified by polymerase chain reaction, and a sequence analysis was performed.The mutation was detected in 1 symptomatic and 2 asymptomatic family members. The deletion of base 4066_4068delTT leads to a shift in the amino acid sequence and a premature stop of the protein translation. The clinical diagnosis of Brugada syndrome in this family was supported by the detection of the new mutation.We describe a family partly with Brugada syndrome and a novel mutation in the exon 23 of the SCN5A gene leading to a deletion of 2 thymidine bases. This mutation results in an early termination of the encoded protein and possibly in a nonfunctional channel protein.