DSG2 mutations contribute to arrhythmogenic right ventricular dysplasia/cardiomyopathy by Awad Mark M, Dalal Darshan, Cho Eunpi, Amat-Alarcon Nuria, James Cynthia, Tichnell Crystal, Tucker April, Russell Stuart D, Bluemke David A, Dietz Harry C, Calkins Hugh, Judge Daniel P in American journal of human genetics (2006). PubMed

Abstract

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.

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