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

Van Damme, Tim; Colige, Alain; Syx, Delfien; Giunta, Cecilia; Lindert, Uschi; Rohrbach, Marianne; Aryani, Omid; ALANAY, YASEMİN; Simsek-Kiper, PELİN; Kroes, Hester; Devriendt, Koen; Thiry, Marc; Symoens, Sofie; De Paepe, Anne; Malfait, Fransiska

doi:10.1038/gim.2015.188

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 (SCI-Expanded, Scopus)

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 (SCI-EXPANDED), Scopus
Page Numbers: pp.882-891
Open Archive Collection: AVESIS Open Access Collection
Hacettepe University Affiliated: Yes

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.