Analyses of more than 60,000 exomes questions the role of numerous genes previously associated with dilated cardiomyopathy.

ABSTRACT:

Background

Hundreds of genetic variants have been described as disease causing in dilated cardiomyopathy (DCM). Some of these associations are now being questioned. We aimed to identify the prevalence of previously DCM associated variants in the Exome Aggregation Consortium (ExAC), in order to identify potentially false-positive DCM variants.

Methods

Variants listed as DCM disease-causing variants in the Human Gene Mutation Database were extracted from ExAC. Pathogenicity predictions for these variants were mined from dbNSFP v 2.9 database.

Results

Of the 473 DCM variants listed in HGMD, 148 (31%) were found in ExAC. The expected number of individuals with DCM in ExAC is 25 based on the prevalence in the general population. Yet, 35 variants were found in more than 25

SUBMITTER: Nouhravesh N 

PROVIDER: S-EPMC5118206 | biostudies-literature | 2016 Nov

REPOSITORIES: biostudies-literature