The Brugada Syndrome: A Rare Arrhythmia Disorder with Complex Inheritance.

ABSTRACT: For the last 10 years, applying new sequencing technologies to thousands of whole exomes has revealed the high variability of the human genome. Extreme caution should thus be taken to avoid misinterpretation when associating rare genetic variants to disease susceptibility. The Brugada syndrome (BrS) is a rare inherited arrhythmia disease associated with high risk of sudden cardiac death in the young adult. Familial inheritance has long been described as Mendelian, with autosomal dominant mode of transmission and incomplete penetrance. However, all except 1 of the 23 genes previously associated with the disease have been identified through a candidate gene approach. To date, only rare coding variants in the SCN5A gene have been significantly associated with the syndrome. However, the genoty

SUBMITTER: Gourraud JB 

PROVIDER: S-EPMC4842929 | biostudies-literature | 2016

REPOSITORIES: biostudies-literature