Mutations in the desmosomal protein plakophilin-2 are common in arrhythmogenic right ventricular cardiomyopathy.
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.
Max-Delbrüeck Center for Molecular Medicine, D-13092 Berlin-Buch, Germany.
Brenda
B
Gerull
Arnd
A
Heuser
Thomas
T
Wichter
Matthias
M
Paul
Craig T
CT
Basson
Deborah A
DA
McDermott
Bruce B
BB
Lerman
Steve M
SM
Markowitz
Patrick T
PT
Ellinor
Calum A
CA
MacRae
Stefan
S
Peters
Katja S
KS
Grossmann
Jörg
J
Drenckhahn
Beate
B
Michely
Sabine
S
Sasse-Klaassen
Walter
W
Birchmeier
Rainer
R
Dietz
Günter
G
Breithardt
Eric
E
Schulze-Bahr
Ludwig
L
Thierfelder
D000293:Adolescent; D019571:Arrhythmogenic Right Ventricular Dysplasia / Q000235:genetics*; D003896:Desmosomes; D005260:Female; D006801:Humans; D008297:Male; D008969:Molecular Sequence Data; D009154:Mutation; D051191:Plakophilins; D011506:Proteins / Q000235:genetics*
C495337:PKP2 protein, human; D051191:Plakophilins; D011506:Proteins