Article
TECRL, a new life-threatening inherited arrhythmia gene associated with overlapping clinical features of both LQTS and CPVT.
EMBO molecular medicine - 1 Dec 2016
Devalla Harsha D, Gélinas Roselle, Aburawi Elhadi H, Beqqali Abdelaziz, Goyette Philippe, Freund Christian, Chaix Marie-A, Tadros Rafik, Jiang Hui, Le Béchec Antony, Monshouwer-Kloots Jantine J, Zwetsloot Tom, Kosmidis Georgios, Latour Frédéric, Alikashani Azadeh, Hoekstra Maaike, Schlaepfer Jurg, Mummery Christine L, Stevenson Brian, Kutalik Zoltan, de Vries Antoine Af, Rivard Léna, Wilde Arthur Am, Talajic Mario, Verkerk Arie O, Al-Gazali Lihadh, Rioux John D, Bhuiyan Zahurul A, Passier Robert
Abstract excerpt
Genetic causes of many familial arrhythmia syndromes remain elusive. In this study, whole-exome sequencing (WES) was carried out on patients from three different families that presented with life-threatening arrhythmias and high risk of sudden cardiac death (SCD). Two French Canadian probands carried identical homozygous rare variant in TECRL gene (p.Arg196Gln), which encodes the trans-2,3-enoyl-CoA...
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