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

Erken H., Yariz K. O., Duman D., TULUNAY KAYA C., Sayin T., Heper A., ...Daha Fazla

BRITISH JOURNAL OF DERMATOLOGY, cilt.165, sa.4, ss.917-921, 2011 (SCI-Expanded) identifier identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 165 Sayı: 4
  • Basım Tarihi: 2011
  • Doi Numarası: 10.1111/j.1365-2133.2011.10455.x
  • Dergi Adı: BRITISH JOURNAL OF DERMATOLOGY
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Sayfa Sayıları: ss.917-921
  • Ankara Üniversitesi Adresli: Evet

Özet

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.