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., et al.

GENETICS IN MEDICINE, cilt.18, ss.882-891, 2016 (SCI İndekslerine Giren Dergi)

  • Cilt numarası: 18 Konu: 9
  • Basım Tarihi: 2016
  • Doi Numarası: 10.1038/gim.2015.188
  • Dergi Adı: GENETICS IN MEDICINE
  • Sayfa Sayısı: ss.882-891

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.