title: Novel mutation of plakophilin-2 associated with arrhythmogenic right ventricular cardiomyopathy.
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.
authors.affiliation: Department of Cardiovascular and Respiratory Medicine, Shiga University of Medical Science, Otsu, Japan.
authors.forename: Iori
authors.initials: I
authors.lastname: Nagaoka
authors.forename: Keiji
authors.initials: K
authors.lastname: Matsui
authors.forename: Takeshi
authors.initials: T
authors.lastname: Ueyama
authors.forename: Masashi
authors.initials: M
authors.lastname: Kanemoto
authors.forename: Jie
authors.initials: J
authors.lastname: Wu
authors.forename: Akihiko
authors.initials: A
authors.lastname: Shimizu
authors.forename: Masunori
authors.initials: M
authors.lastname: Matsuzaki
authors.forename: Minoru
authors.initials: M
authors.lastname: Horie
mesh_terms: D000328:Adult; D019571:Arrhythmogenic Right Ventricular Dysplasia / Q000000981:diagnostic imaging / Q000235:genetics*; D018388:Codon, Terminator / Q000235:genetics; D004252:DNA Mutational Analysis; D005091:Exons / Q000235:genetics*; D016368:Frameshift Mutation / Q000235:genetics*; D006801:Humans; D008297:Male; D016254:Mutagenesis, Insertional; D051191:Plakophilins / Q000235:genetics*; D014176:Protein Biosynthesis / Q000235:genetics*; D011859:Radiography
chemical_list: D018388:Codon, Terminator; C495337:PKP2 protein, human; D051191:Plakophilins