No major role for rare plectin variants in arrhythmogenic right ventricular cardiomyopathy.

ABSTRACT:

Aims

Likely pathogenic/pathogenic variants in genes encoding desmosomal proteins play an important role in the pathophysiology of arrhythmogenic right ventricular cardiomyopathy (ARVC). However, for a substantial proportion of ARVC patients, the genetic substrate remains unknown. We hypothesized that plectin, a cytolinker protein encoded by the PLEC gene, could play a role in ARVC because it has been proposed to link the desmosomal protein desmoplakin to the cytoskeleton and therefore has a potential function in the desmosomal structure.

Methods

We screened PLEC in 359 ARVC patients and compared the frequency of rare coding PLEC variants (minor allele frequency [MAF] <0.001) between patients and controls. To assess the frequency of rare variants in the control population, we

SUBMITTER: Hoorntje ET 

PROVIDER: S-EPMC6117038 | biostudies-literature | 2018

REPOSITORIES: biostudies-literature