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.
Gerull
Brenda
B
Max-Delbrüeck Center for Molecular Medicine, D-13092 Berlin-Buch, Germany.
Heuser
Arnd
A
Wichter
Thomas
T
Paul
Matthias
M
Basson
Craig T
CT
McDermott
Deborah A
DA
Lerman
Bruce B
BB
Markowitz
Steve M
SM
Ellinor
Patrick T
PT
MacRae
Calum A
CA
Peters
Stefan
S
Grossmann
Katja S
KS
Drenckhahn
Jörg
J
Michely
Beate
B
Sasse-Klaassen
Sabine
S
Birchmeier
Walter
W
Dietz
Rainer
R
Breithardt
Günter
G
Schulze-Bahr
Eric
E
Thierfelder
Ludwig
L
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