Novel pathogenic variant in MED12 causing non-syndromic dilated cardiomyopathy.

ABSTRACT:

Background

Dilated cardiomyopathy (DCM) is a major cause of sudden cardiac death and heart failure. Up to 50% of all DCM cases have a genetic background, with variants in over 250 genes reported in association with DCM. Whole-exome sequencing (WES) is a powerful tool to identify variants underlying genetic cardiomyopathies. Via WES, we sought to identify DCM causes in a family with 2 affected patients.

Methods

WES was performed on the affected members of an Iranian family to identify the genetic etiology of DCM. The candidate variant was segregated via polymerase chain reaction and Sanger sequencing. Computational modeling and protein-protein docking were performed to survey the impact of the variant on the structure and function of the protein.

Results

A novel single

SUBMITTER: Ghasemi S 

PROVIDER: S-EPMC10734089 | biostudies-literature | 2023 Dec

REPOSITORIES: biostudies-literature