Article
New exome data question the pathogenicity of genetic variants previously associated with catecholaminergic polymorphic ventricular tachycardia.
Circulation. Cardiovascular genetics - 1 Oct 2013
Jabbari Javad, Jabbari Reza, Nielsen Morten W, Holst Anders G, Nielsen Jonas B, Haunsø Stig, Tfelt-Hansen Jacob, Svendsen Jesper H, Olesen Morten S
Abstract excerpt
BACKGROUND: Catecholaminergic polymorphic ventricular tachycardia (CPVT) is a lethal, rare hereditary disease with an estimated prevalence of 1:10 000. The genetic variants that cause CPVT are usually highly penetrant. To date, about 189 variants in 5 genes (RYR2, CASQ2, CALM1, TRND, and KCNJ2) have been associated with CPVT pathogenesis. METHODS AND RESULTS: The Exome Sequencing Project database (ESP; n=6503)...
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