Mutations in SCN10A are responsible for a large fraction of cases of Brugada syndrome.

ABSTRACT:

Background

BrS is an inherited sudden cardiac death syndrome. Less than 35% of BrS probands have genetically identified pathogenic variants. Recent evidence has implicated SCN10A, a neuronal sodium channel gene encoding Nav1.8, in the electrical function of the heart.

Objectives

The purpose of this study was to test the hypothesis that SCN10A variants contribute to the development of Brugada syndrome (BrS).

Methods

Clinical analysis and direct sequencing of BrS susceptibility genes were performed for 150 probands and family members as well as >200 healthy controls. Expression and coimmunoprecipitation studies were performed to functionally characterize the putative pathogenic mutations.

Results

We identified 17 SCN10A mutations in 25 probands (20 male and 5 fem

SUBMITTER: Hu D 

PROVIDER: S-EPMC4116276 | biostudies-literature | 2014 Jul

REPOSITORIES: biostudies-literature