Novel missense mutations in exon 15 of desmoglein-2: role of the intracellular cadherin segment in arrhythmogenic right ventricular cardiomyopathy?

ABSTRACT:

Background

The diagnosis of arrhythmogenic right ventricular cardiomyopathy can be challenging. Disease-causing mutations in desmosomal genes have been identified. A novel diagnostic feature, loss of immunoreactivity for plakoglobin from the intercalated disks, recently was proposed.

Objective

The purpose of this study was to identify two novel mutations in the intracellular cadherin segment of desmoglein-2 (G812S and C813R in exon 15). Co-segregation of the G812S mutation with disease expression was established in a large Caucasian family. Endomyocardial biopsies of two individuals showed reduced plakoglobin signal at the intercalated disk.

Methods

To understand the pathologic changes occurring in the diseased myocardium, functional studies on three mutations in exon

SUBMITTER: Gehmlich K 

PROVIDER: S-EPMC2994644 | biostudies-literature | 2010 Oct

REPOSITORIES: biostudies-literature