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

Abstract

Arrhythmogenic right ventricular dysplasia/cardiomyopathy (ARVD/C) is an inherited myocardial disorder associated with arrhythmias, heart failure, and sudden death. To date, mutations in four genes encoding major desmosomal proteins (plakoglobin, desmoplakin, plakophilin-2, and desmoglein-2) have been implicated in the pathogenesis of ARVD/C. We screened 77 probands with ARVD/C for mutations in desmocollin-2 (DSC2), a gene coding for a desmosomal cadherin. Two heterozygous mutations--a deletion and an insertion--were identified in four probands. Both mutations result in frameshifts and premature truncation of the desmocollin-2 protein. For the first time, we have identified mutations in desmocollin-2 in patients with ARVD/C, a finding that is consistent with the hypothesis that ARVD/C is a disease of the desmosome.

• Authors: Petros Syrris, Deirdre Ward, Alison Evans, Angeliki Asimaki, Estelle Gandjbakhch, Srijita Sen-Chowdhry, William J McKenna
• Journal: American journal of human genetics (Am J Hum Genet) Vol. 79 Issue 5 Pg. 978-84 (Nov 2006) ISSN: 0002-9297 [Print] United States
• PMID: 17033975 (Publication Type: Journal Article, Research Support, Non-U.S. Gov't)

Chemical References

• Codon, Nonsense
• DNA Primers
• DSC2 protein, human
• Desmocollins
• DNA

Topics

• Arrhythmogenic Right Ventricular Dysplasia (genetics, physiopathology)
• Base Sequence
• Codon, Nonsense (genetics)
• DNA (genetics)
• DNA Primers (genetics)
• Desmocollins (genetics)
• Desmosomes (genetics)
• Electrocardiography
• Female
• Frameshift Mutation
• Humans
• Male
• Mutation
• Pedigree
• Sequence Deletion