Mutations in the desmosomal protein plakophilin-2 are common in arrhythmogenic right ventricular cardiomyopathy

Autor/innen

  • B. Gerull
  • A. Heuser
  • T. Wichter
  • M. Paul
  • C.T. Basson
  • D.A. McDermott
  • B.B. Lerman
  • S.M. Markowitz
  • P.T. Ellinor
  • C.A. MacRae
  • S. Peters
  • K.S. Grossmann
  • J. Drenckhahn
  • B. Michely
  • S. Sasse-Klaassen
  • W. Birchmeier
  • R. Dietz
  • G. Breithardt
  • E. Schulze-Bahr
  • L. Thierfelder

Journal

  • Nature Genetics

Quellenangabe

  • Nat Genet 36 (11): 1162-1164

Zusammenfassung

  • Arrhythmogenic right ventricular cardiomyopathy (ARVC) is associated with fibrofatty replacement of cardiac myocytes, ventricular tachyarrhythmias and sudden cardiac death. In 32 of 120 unrelated individuals with ARVC, we identified heterozygous mutations in PKP2, which encodes plakophilin-2, an essential armadillo-repeat protein of the cardiac desmosome. In two kindreds with ARVC, disease was incompletely penetrant in most carriers of PKP2 mutations.


DOI

doi:10.1038/ng1461