Mutations in COMP cause familial carpal tunnel syndrome
oleh: Chunyu Li, Ni Wang, Alejandro A. Schäffer, Xilin Liu, Zhuo Zhao, Gene Elliott, Lisa Garrett, Nga Ting Choi, Yueshu Wang, Yufa Wang, Cheng Wang, Jin Wang, Danny Chan, Peiqiang Su, Shusen Cui, Yingzi Yang, Bo Gao
| Format: | Article |
|---|---|
| Diterbitkan: | Nature Portfolio 2020-07-01 |
Deskripsi
Familial carpal tunnel syndrome (CTS) is common, but causal genes are not characterized. Here the authors report two CTS-related mutations in two large families that impair secretion of COMP in tenocytes, leading to ER stress-induced unfolded protein response, inflammation and fibrosis in patients and mouse models.