Hang Zhou, Chengjie Lian, Tingting Wang, Xiaoming Yang, Caixia Xu, Deying Su, Shuhui Zheng, Xiangyu Huang, Zhiheng Liao, Taifeng Zhou, Xianjian Qiu, Yuyu Chen, Bo Gao, Yongyong Li, Xudong Wang, Guoling You, Qihua Fu, Christina Gurnett, Dongsheng Huang, Peiqiang Su
Arthrogryposis is a group of phenotypically and genetically heterogeneous disorders characterized by congenital contractures of two or more parts of the body; the pathogenesis and the causative genes of arthrogryposis remain undetermined. We examined a four-generation arthrogryposis pedigree characterized by camptodactyly, limited forearm supination, and loss of myofibers in the forearms and hands. By using whole-exome sequencing, we confirmed MET p.Y1234C mutation to be responsible for arthrogryposis in this pedigree...
February 18, 2019: EMBO Molecular Medicine