Novel mutation of plakophilin-2 associated with arrhythmogenic right ventricular cardiomyopathy

Circ J. 2006 Jul;70(7):933-5. doi: 10.1253/circj.70.933.

Abstract

Arrhythmogenic right ventricular cardiomyopathy (ARVC) is a disease characterized by dilatation and akinesis of the right ventricle, and causes life-threatening ventricular arrhythmia. Mutations of plakophilin-2 (PKP2) have recently been identified as one causative abnormality in ARVC. A case of ARVC with a mutation of PKP2 is reported here. Direct sequencing of the patient's DNA revealed an insertion mutation in exon 8 of PKP2 (1728_1729insGATG). The mutation caused the frameshift and the premature termination of translation (R577DfsX5). This is the first case report of PKP2 mutation found in Japanese ARVC patients.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adult
  • Arrhythmogenic Right Ventricular Dysplasia / diagnostic imaging
  • Arrhythmogenic Right Ventricular Dysplasia / genetics*
  • Codon, Terminator / genetics
  • DNA Mutational Analysis
  • Exons / genetics*
  • Frameshift Mutation / genetics*
  • Humans
  • Male
  • Mutagenesis, Insertional
  • Plakophilins / genetics*
  • Protein Biosynthesis / genetics*
  • Radiography

Substances

  • Codon, Terminator
  • PKP2 protein, human
  • Plakophilins