Cardiomyopathy with alopecia and palmoplantar keratoderma (CAPK) is caused by a JUP mutation

H. Erken, K. O. Yariz, D. Duman, C. T. Kaya, T. Sayin, A. O. Heper, Mustafa Tekin

Research output: Contribution to journalArticle

16 Citations (Scopus)

Abstract

Inherited desmosomal cardiocutaneous syndromes are characterized by the quartet of woolly hair, palmoplantar keratoderma (PPK), skin fragility and cardiac abnormalities, which are caused by mutations in genes coding for desmosomal proteins. We describe a previously unrecognized autosomal recessive syndrome in a family with arrhythmogenic right ventricular cardiomyopathy associated with alopecia and PPK (named CAPK). Genetic investigation of the family led us to find a homozygous disease-causing mutation, p.R265H, in JUP which encodes plakoglobin, a well-described member of the desmosome complex. This study expands the clinical spectrum of disorders associated with germline mutations affecting desmosomal proteins by describing a novel phenotype.

Original languageEnglish
Pages (from-to)917-921
Number of pages5
JournalBritish Journal of Dermatology
Volume165
Issue number4
DOIs
StatePublished - Oct 1 2011
Externally publishedYes

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Palmoplantar Keratoderma
Alopecia
Cardiomyopathies
Mutation
gamma Catenin
Arrhythmogenic Right Ventricular Dysplasia
Desmosomes
Germ-Line Mutation
Hair
Proteins
Phenotype
Skin
Genes

ASJC Scopus subject areas

  • Dermatology

Cite this

Cardiomyopathy with alopecia and palmoplantar keratoderma (CAPK) is caused by a JUP mutation. / Erken, H.; Yariz, K. O.; Duman, D.; Kaya, C. T.; Sayin, T.; Heper, A. O.; Tekin, Mustafa.

In: British Journal of Dermatology, Vol. 165, No. 4, 01.10.2011, p. 917-921.

Research output: Contribution to journalArticle

Erken, H. ; Yariz, K. O. ; Duman, D. ; Kaya, C. T. ; Sayin, T. ; Heper, A. O. ; Tekin, Mustafa. / Cardiomyopathy with alopecia and palmoplantar keratoderma (CAPK) is caused by a JUP mutation. In: British Journal of Dermatology. 2011 ; Vol. 165, No. 4. pp. 917-921.
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