A mutation in the beta 3 subunit of the cardiac sodium channel associated with Brugada ECG phenotype.

ABSTRACT:

Background

Brugada syndrome, characterized by ST-segment elevation in the right precordial ECG leads and the development of life-threatening ventricular arrhythmias, has been associated with mutations in 6 different genes. We identify and characterize a mutation in a new gene.

Methods and results

A 64-year-old white male displayed a type 1 ST-segment elevation in V1 and V2 during procainamide challenge. Polymerase chain reaction-based direct sequencing was performed using a candidate gene approach. A missense mutation (L10P) was detected in exon 1 of SCN3B, the beta 3 subunit of the cardiac sodium channel, but not in any other gene known to be associated with Brugada syndrome or in 296 controls. Wild-type (WT) and mutant genes were expressed in TSA201 cells and studied using

SUBMITTER: Hu D 

PROVIDER: S-EPMC2801870 | biostudies-literature | 2009 Jun

REPOSITORIES: biostudies-literature