Case report: Whole-exome sequencing identifies a novel DES mutation (p. E434K) in a Chinese family with cardiomyopathy and sudden cardiac death.

ABSTRACT:

Background

Desmin is an intermediate filament protein that plays a critical role in the stabilization of the sarcomeres and cell contacts in the cardiac intercalated disk. Mutated DES gene can cause hereditary cardiomyopathy with heterogeneous phenotypes, while the underlying molecular mechanisms requires further investigation.

Methods

We described a Chinese family present with cardiomyopathy and sudden cardiac death (SCD). Whole-exome sequencing (WES) and bioinformatics strategies were employed to explore the genetic entity of this family.

Results

An unknown heterozygote missense variant (c.1300G > A; p. E434K) of DES gene was identified. The mutation cosegregates in this family. The mutation was predicted as pathogenic and was absent in our 200 healthy

SUBMITTER: Liu YX 

PROVIDER: S-EPMC9580399 | biostudies-literature | 2022

REPOSITORIES: biostudies-literature