Solena Le Scouarnec, Matilde Karakachoff, Jean-Baptiste Gourraud, Pierre Lindenbaum, Stéphanie Bonnaud, Vincent Portero, Laëtitia Duboscq-Bidot, Xavier Daumy, Floriane Simonet, Raluca Teusan, Estelle Baron, Jade Violleau, Elodie Persyn, Lise Bellanger, Julien Barc, Stéphanie Chatel, Raphaël Martins, Philippe Mabo, Frédéric Sacher, Michel Haïssaguerre, Florence Kyndt, Sébastien Schmitt, Stéphane Bézieau, Hervé Le Marec, Christian Dina, Jean-Jacques Schott, Vincent Probst, Richard Redon
The Brugada syndrome (BrS) is a rare heritable cardiac arrhythmia disorder associated with ventricular fibrillation and sudden cardiac death. Mutations in the SCN5A gene have been causally related to BrS in 20-30% of cases. Twenty other genes have been described as involved in BrS, but their overall contribution to disease prevalence is still unclear. This study aims to estimate the burden of rare coding variation in arrhythmia-susceptibility genes among a large group of patients with BrS. We have developed a custom kit to capture and sequence the coding regions of 45 previously reported arrhythmia-susceptibility genes and applied this kit to 167 index cases presenting with a Brugada pattern on the electrocardiogram as well as 167 individuals aged over 65-year old and showing no history of cardiac arrhythmia...
May 15, 2015: Human Molecular Genetics