Molecular etiology of arthrogryposis in multiple families of mostly Turkish origin

BAYRAM, Yavuz; KARACA, Ender; AKDEMIR, Zeynep; Yilmaz, Elif; Tayfun, Gulsen; Aydin, Hatip; TORUN, Deniz; Bozdogan, Sevcan; Gezdirici, Alper; Isikay, Sedat; ATILT, Mehmed; GAMBIN, Tomasz; HAREL, Tamar; EL-HATTAB, Ayman; CHARNG, Wu-Lin; PEHLIVAN, Davut; JHANGIANI, Shalini; MUZNY, Donna; Karaman, Ali; CELIK, Tamer; YUREGIR, Ozge; YILDIRIM, Timur; BAYHAN, Ilhan; BOERWINKLE, Eric; GIBBS, Richard; Elcioglu, Nurse; Tuysuz, Beyhan; LUPSKI, James

doi:10.1172/jci84457

Molecular etiology of arthrogryposis in multiple families of mostly Turkish origin

BAYRAM Y., KARACA E., AKDEMIR Z. C., Yilmaz E. O., Tayfun G. A., Aydin H., ...More

JOURNAL OF CLINICAL INVESTIGATION, vol.126, no.2, pp.762-778, 2016 (SCI-Expanded, Scopus)

Publication Type: Article / Article
Volume: 126 Issue: 2
Publication Date: 2016
Doi Number: 10.1172/jci84457
Journal Name: JOURNAL OF CLINICAL INVESTIGATION
Journal Indexes: Science Citation Index Expanded (SCI-EXPANDED), Scopus
Page Numbers: pp.762-778
Istanbul University Affiliated: Yes

Abstract

BACKGROUND. Arthrogryposis, defined as congenital, joint contractures in 2 or more body areas, is a clinical sign rather than a specific disease diagnosis. To date, more than 400 different disorders have been described that present with arthrogryposis, and variants of more than 220 genes have been associated with these disorders; however, the underlying molecular etiology remains unknown in the considerable majority of these cases.