Whole exome sequencing identifies a novel EMD mutation in a Chinese family with dilated cardiomyopathy.

ABSTRACT:

Background

Variants in the emerin gene (EMD) were implicated in X-linked recessive Emery-Dreifuss muscular dystrophy (EDMD), characterized by early-onset contractures of tendons, progressive muscular weakness and cardiomyopathy. To date, 223 mutations have been reported in EMD gene and the majority of them caused a predominant skeletal muscular phenotype. In this study, we identified a novel deletion mutation in EMD exon 1, which results in almost a complete loss of emerin protein in a large Chinese family. However, the patients suffered severe dilated cardiomyopathy (DCM) but very mild skeletal muscle disorder.

Case presentation

Whole exome sequencing (WES) and linkage analysis were performed to identify the underlying mutation in a Chinese DCM family spanning five generati

SUBMITTER: Zhang M 

PROVIDER: S-EPMC4105140 | biostudies-literature | 2014 Jul

REPOSITORIES: biostudies-literature