Reevaluating the Genetic Contribution of Monogenic Dilated Cardiomyopathy.

ABSTRACT:

Background

Dilated cardiomyopathy (DCM) is genetically heterogeneous, with >100 purported disease genes tested in clinical laboratories. However, many genes were originally identified based on candidate-gene studies that did not adequately account for background population variation. Here we define the frequency of rare variation in 2538 patients with DCM across protein-coding regions of 56 commonly tested genes and compare this to both 912 confirmed healthy controls and a reference population of 60 706 individuals to identify clinically interpretable genes robustly associated with dominant monogenic DCM.

Methods

We used the TruSight Cardio sequencing panel to evaluate the burden of rare variants in 56 putative DCM genes in 1040 patients with DCM and 912 healthy volunteers p

SUBMITTER: Mazzarotto F 

PROVIDER: S-EPMC7004454 | biostudies-literature | 2020 Feb

REPOSITORIES: biostudies-literature