Expanding the clinical and mutational spectrum of the Ehlers-Danlos syndrome, dermatosparaxis type

Van Damme T., Colige A., Syx D., Giunta C., Lindert U., Rohrbach M., ...Daha Fazla

GENETICS IN MEDICINE, cilt.18, sa.9, ss.882-891, 2016 (SCI-Expanded) identifier identifier identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 18 Sayı: 9
  • Basım Tarihi: 2016
  • Doi Numarası: 10.1038/gim.2015.188
  • Dergi Adı: GENETICS IN MEDICINE
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Sayfa Sayıları: ss.882-891
  • Anahtar Kelimeler: ADAMTS2, ADAMTS-2, dermatosparaxis type, Ehlers-Danlos, syndrome, genotype, phenotype, DERMAL COLLAGEN, BOVINE DERMATOSPARAXIS, CONNECTIVE TISSUES, SKULL FRACTURES, NATURAL-HISTORY, MESSENGER-RNAS, HIMALAYAN CAT, PROCOLLAGEN, GENE, PROPEPTIDE
  • Acıbadem Mehmet Ali Aydınlar Üniversitesi Adresli: Evet

Özet

Purpose: The Ehlers-Danlos syndrome (EDS), dermatosparaxis type, is a recessively inherited connective tissue disorder caused by deficient activity of ADAMTS-2, an enzyme that cleaves the amino terminal propeptide domain of types I, II, and III procollagen. Only 10 EDS dermatosparaxis patients have been reported, all presenting a recognizable phenotype with characteristic facial gestalt, extreme skin fragility and. laxity, excessive bruising; and sometimes major complications due to visceral and vascular fragility.