DSG2 mutations contribute to arrhythmogenic right ventricular dysplasia/cardiomyopathy.

Published

Journal Article

Arrhythmogenic right ventricular dysplasia/cardiomyopathy (ARVD/C) is a disorder characterized by fibrofatty replacement of cardiac myocytes that typically manifests in the right ventricle. It is inherited as an autosomal dominant disease with reduced penetrance, although autosomal recessive forms of the disease also occur. We identified four probands with ARVD/C caused by mutations in DSG2, which encodes desmoglein-2, a component of the cardiac desmosome. No association between mutations in this gene and human disease has been reported elsewhere. One of these probands has compound-heterozygous mutations in DSG2, and the remaining three have isolated heterozygous missense mutations, each disrupting known functional components of desmoglein-2. We report that mutations in DSG2 contribute to the development of ARVD/C.

Full Text

Duke Authors

Cited Authors

  • Awad, MM; Dalal, D; Cho, E; Amat-Alarcon, N; James, C; Tichnell, C; Tucker, A; Russell, SD; Bluemke, DA; Dietz, HC; Calkins, H; Judge, DP

Published Date

  • July 2006

Published In

Volume / Issue

  • 79 / 1

Start / End Page

  • 136 - 142

PubMed ID

  • 16773573

Pubmed Central ID

  • 16773573

International Standard Serial Number (ISSN)

  • 0002-9297

Digital Object Identifier (DOI)

  • 10.1086/504393

Language

  • eng

Conference Location

  • United States