An African loss-of-function CACNA1C variant p.T1787M associated with a risk of ventricular fibrillation.

ABSTRACT: Calcium regulation plays a central role in cardiac function. Several variants in the calcium channel Ca_v1.2 have been implicated in arrhythmic syndromes. We screened patients with Brugada syndrome, short QT syndrome, early repolarisation syndrome, and idiopathic ventricular fibrillation to determine the frequency and pathogenicity of Ca_v1.2 variants. Ca_v1.2 related genes, CACNA1C, CACNB2 and CACNA2D1, were screened in 65 probands. Missense variants were introduced in the Ca_v1.2 alpha subunit plasmid by mutagenesis to assess their pathogenicity using patch clamp approaches. Six missense variants were identified in CACNA1C in five individuals. Five of them, A1648T, A1689T, G1795R, R1973Q, C1992F, showed no major alterations of the channel function.

SUBMITTER: Blancard M 

PROVIDER: S-EPMC6168548 | biostudies-literature | 2018 Oct

REPOSITORIES: biostudies-literature