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., ...More

GENETICS IN MEDICINE, vol.18, no.9, pp.882-891, 2016 (Peer-Reviewed Journal) identifier identifier identifier identifier

  • Publication Type: Article / Article
  • Volume: 18 Issue: 9
  • Publication Date: 2016
  • Doi Number: 10.1038/gim.2015.188
  • Journal Name: GENETICS IN MEDICINE
  • Journal Indexes: Science Citation Index Expanded, Scopus
  • Page Numbers: pp.882-891
  • Keywords: 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

Abstract

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.