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Novel desmoplakin mutation: juvenile biventricular cardiomyopathy with left ventricular non-compaction and acantholytic palmoplantar keratoderma

Please always quote using this URN: urn:nbn:de:bvb:20-opus-141198
  • 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 bpTwo 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.show moreshow less

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Metadaten
Author: Tatjana Williams, Wolfram Machann, Leif Kühler, Henning Hamm, Josef Müller-Höcker, Michael Zimmer, Georg Ertl, Oliver Ritter, Meinrad Beer, Jost Schönberger
URN:urn:nbn:de:bvb:20-opus-141198
Document Type:Journal article
Faculties:Medizinische Fakultät / Institut für Klinische Biochemie und Pathobiochemie
Medizinische Fakultät / Institut für diagnostische und interventionelle Radiologie (Institut für Röntgendiagnostik)
Medizinische Fakultät / Klinik und Poliklinik für Dermatologie, Venerologie und Allergologie
Medizinische Fakultät / Medizinische Klinik und Poliklinik I
Language:English
Parent Title (English):Clinical Research in Cardiology
Year of Completion:2011
Volume:100
Issue:12
Pagenumber:1087-1093
Source:Clin Res Cardiol (2011) 100:1087–1093, DOI 10.1007/s00392-011-0345-9
DOI:https://doi.org/10.1007/s00392-011-0345-9
Dewey Decimal Classification:6 Technik, Medizin, angewandte Wissenschaften / 61 Medizin und Gesundheit / 610 Medizin und Gesundheit
Tag:Desmoplakin; Juvenile biventricular cardiomyopathy; Palmoplantar keratoderma
Release Date:2019/01/07
Licence (German):License LogoCC BY-NC: Creative-Commons-Lizenz: Namensnennung, Nicht kommerziell