Nature Communications (Jul 2020)
Mutations in COMP cause familial carpal tunnel syndrome
- 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
Affiliations
- Chunyu Li
- Department of Hand Surgery, China-Japan Union Hospital of Jilin University
- Ni Wang
- School of Biomedical Sciences, Li Ka Shing Faculty of Medicine, The University of Hong Kong
- Alejandro A. Schäffer
- National Center for Biotechnology Information and National Cancer Institute, National Institutes of Health
- Xilin Liu
- Department of Hand Surgery, China-Japan Union Hospital of Jilin University
- Zhuo Zhao
- Department of Hand Surgery, China-Japan Union Hospital of Jilin University
- Gene Elliott
- National Human Genome Research Institute, National Institutes of Health
- Lisa Garrett
- National Human Genome Research Institute, National Institutes of Health
- Nga Ting Choi
- School of Biomedical Sciences, Li Ka Shing Faculty of Medicine, The University of Hong Kong
- Yueshu Wang
- Department of Hand Surgery, China-Japan Union Hospital of Jilin University
- Yufa Wang
- Department of Hand Surgery, China-Japan Union Hospital of Jilin University
- Cheng Wang
- School of Biomedical Sciences, Li Ka Shing Faculty of Medicine, The University of Hong Kong
- Jin Wang
- School of Biomedical Sciences, Li Ka Shing Faculty of Medicine, The University of Hong Kong
- Danny Chan
- School of Biomedical Sciences, Li Ka Shing Faculty of Medicine, The University of Hong Kong
- Peiqiang Su
- Department of Orthopaedic Surgery, First Affiliated Hospital of Sun Yat-sen University
- Shusen Cui
- Department of Hand Surgery, China-Japan Union Hospital of Jilin University
- Yingzi Yang
- National Human Genome Research Institute, National Institutes of Health
- Bo Gao
- School of Biomedical Sciences, Li Ka Shing Faculty of Medicine, The University of Hong Kong
- DOI
- https://doi.org/10.1038/s41467-020-17378-z
- Journal volume & issue
-
Vol. 11,
no. 1
pp. 1 – 16
Abstract
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.
