The pathogenicity of genetic variants previously associated with left ventricular non-compaction.

ABSTRACT:

Background

Left ventricular non-compaction (LVNC) is a rare cardiomyopathy. Many genetic variants have been associated with LVNC. However, the number of the previous LVNC-associated variants that are common in the background population remains unknown. The aim of this study was to provide an updated list of previously reported LVNC-associated variants with biologic description and investigate the prevalence of LVNC variants in healthy general population to find false-positive LVNC-associated variants.

Methods and results

The Human Gene Mutation Database and PubMed were systematically searched to identify all previously reported LVNC-associated variants. Thereafter, the Exome Sequencing Project (ESP) and the Exome Aggregation Consortium (ExAC), that both represent the backgro

SUBMITTER: Abbasi Y 

PROVIDER: S-EPMC4799875 | biostudies-literature | 2016 Mar

REPOSITORIES: biostudies-literature