TY  - JOUR
A1  - Williams, Tatjana
A1  - Machann, Wolfram
A1  - Kühler, Leif
A1  - Hamm, Henning
A1  - Müller-Höcker, Josef
A1  - Zimmer, Michael
A1  - Ertl, Georg
A1  - Ritter, Oliver
A1  - Beer, Meinrad
A1  - Schönberger, Jost
T1  - Novel desmoplakin mutation: juvenile biventricular cardiomyopathy with left ventricular non-compaction and acantholytic palmoplantar keratoderma
T2  - Clinical Research in Cardiology
N2  - Two sons of a consanguineous marriage developed biventricular cardiomyopathy. One boy died of severe heart failure at the age of 6 years, the other was transplanted because of severe heart failure at the age of 10 years. In addition, focal palmoplantar keratoderma and woolly hair were apparent in both boys. As similar phenotypes have been described in Naxos disease and Carvajal syndrome, respectively, the genes for plakoglobin (JUP) and desmoplakin (DSP) were screened for mutations using direct genomic sequencing. A novel homozygous 2 bp deletion was identified in an alternatively spliced region of DSP. The deletion 5208_5209delAG led to a frameshift downstream of amino acid 1,736 with a premature truncation of the predominant cardiac isoform DSP-1. This novel homozygous truncating mutation in the isoform-1 specific region of the DSP C-terminus caused Carvajal syndrome comprising severe early-onset heart failure with features of non-compaction cardiomyopathy, woolly hair and an acantholytic form of palmoplantar keratoderma in our patient. Congenital hair abnormality and manifestation of the cutaneous phenotype in toddler age can help to identify children at risk for cardiac death.
KW  - Desmoplakin
KW  - Juvenile biventricular cardiomyopathy
KW  - Palmoplantar keratoderma
Y1  - 2011
UR  - https://opus.bibliothek.uni-wuerzburg.de/frontdoor/index/index/docId/14119
UR  - https://nbn-resolving.org/urn:nbn:de:bvb:20-opus-141198
VL  - 100
IS  - 12
ER  -