DSG2 mutations contribute to arrhythmogenic right ventricular dysplasia/cardiomyopathy

Article Abstract:

Four probands with arrhythmogenic right ventricular dysplasia/cardiomyopathy (ARVD/C) caused by mutations in DSG2, which encodes desmoglein-2, a component of the cardiac desmosome are identified. It is found that one of these probands has compound-heterozygous mutations in DGS2, and the remaining three have isolated heterozygous missense mutations, each disrupting known functional components of desmoglein-2 and it is reported that mutations in DSG2 contribute to the development of ARVD/C.

Maryland, Pedigree analysis, Clinical report

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Arrhythmogenic right ventricular dysplasia/cardiomyopathy associated with mutations in the desmosomal gene desmocollin-2

Article Abstract:

An estimated 77 probands with arrhythmogenic right ventricular dysplasia/cardiomyopathy (ARVD/C) are screened for mutations in desmocollin-2 (DSC2), a gene coding for a desmosomal cadherin. The heterozygous mutations, which are identified in four probands, result in frameshifts and premature truncation of the desmocollin-2 protein, which is consistent with the hypothesis that ARVD/C is a disease of the desmosome.

Dysplasia

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Mutant desmocollin-2 causes arrhythmogenic right ventricular cardiomyopathy

Article Abstract:

Many unrelated patients with the disorder for mutation in human desmosomal cadherin desmocollin-2 (DSC2) are investigated. The results have identified DSC2 mutations as a cause of arrhythmogenic right ventricular cardiomyopathy (ARVC) in humans and have shown that physiologic levels of DSC2 are crucial for normal cardiac desmosome formation, early cardiac morphogenesis and cardiac function.

Introns, Structure, Desmosomes, Report

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