Referenced in: none

Automatically associated channels: Nav1.5

Title: Genetic analysis of Brugada syndrome in Israel: two novel mutations and possible genetic heterogeneity.

Authors: E Levy-Nissenbaum, M Eldar, Q Wang, H Lahat, B Belhassen, L Ries, E Friedman, E Pras

Journal, date & volume: Genet. Test., 2001 Winter , 5, 331-4

PubMed link: http://www.ncbi.nlm.nih.gov/pubmed/11960580

Abstract
Idiopathic ventricular fibrillation in patients with an electrocardiogram (ECG) pattern of right bundle branch block and ST-segment elevation in leads V1 to V3 (now frequently called Brugada syndrome) is associated with a high incidence of syncopal episodes or sudden death. The disease is inherited as an autosomal dominant trait. Mutations in SCN5A, a cardiac sodium channel gene, have been recently associated with Brugada syndrome. We have analyzed 7 patients from Israel affected with Brugada syndrome. The families of these patients are characterized by a small number of symptomatic members. Sequencing analysis of SCN5A revealed two novel mutations, G35S and R104Q, in two Brugada patients, and a possible R34C polymorphism in two unrelated controls. No mutations were detected in 5 other patients, suggesting genetic heterogeneity. Low penetrance is probably the cause for the small number of symptomatic members in the two families positive for the SCN5A mutations.