ArticleNature communications2020
Mutations in COMP cause familial carpal tunnel syndrome.
Article in Nature communications, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. An erratum has been issued. Cited by 12 papers.
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Who cites it
12 citing papers in PubMed, 28 citations in OpenAlex.
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- CCS-mediated mechanistic link between gestational diabetes mellitus and carpal tunnel syndrome: a multi-omics MR framework.Frontiers in immunology · 2026Article
- Genotype-phenotype correlations in PSACH/EDM1 patients withFrontiers in endocrinology · 2026Review
- Maladaptive Peripheral Ketogenesis in Schwann Cells Mediated by CBAdvanced science (Weinheim, Baden-Wurttemberg, Germany) · 2025Article
- Hepatoprotective Activity of Nature-Derived Polyphenols Studied by Mass Spectrometry Based Multi-OMICS Approach.International journal of molecular sciences · 2025Article
- Immunogenicity of chondrocyte sheets: a review.Frontiers in immunology · 2025Review
- Establishment of a Magnetically Controlled Scalable Nerve Injury Model.Advanced science (Weinheim, Baden-Wurttemberg, Germany) · 2024Article
- Thrombospondins: Conserved mediators and modulators of metazoan extracellular matrix.International journal of experimental pathology · 2024Review
- A comparative study on efficacy of modified endoscopic minimally invasive treatment and traditional open surgery for primary carpal tunnel syndrome.Journal of orthopaedic surgery and research · 2023Article
- Pathophysiology, Diagnosis, Treatment, and Genetics of Carpal Tunnel Syndrome: A Review.Cellular and molecular neurobiology · 2023Review
- Identification of Copy Number Variants in a Southern Chinese Cohort of Patients with Congenital Scoliosis.Genes · 2021Article
- Transthyretin Gene Mutation Associated with Familial Carpal Tunnel Syndrome in Sample of Iraqi Patients.Acta informatica medica : AIM : journal of the Society for Medical Informatics of Bosnia & Herzegovina : casopis Drustva za medicinsku informatiku BiH · 2021Article
Corrections and comments
- Erratum issued
Authors and funding
17 authors at 4 institutions in 3 countries.
Funding
Abstract
Carpal tunnel syndrome (CTS) is the most common peripheral nerve entrapment syndrome, affecting a large proportion of the general population. Genetic susceptibility has been implicated in CTS, but the causative genes remain elusive. Here, we report the identification of two mutations in cartilage oligomeric matrix protein (COMP) that segregate with CTS in two large families with or without multiple epiphyseal dysplasia (MED). Both mutations impair the secretion of COMP by tenocytes, but the mutation associated with MED also perturbs its secretion in chondrocytes. Further functional characterization of the CTS-specific mutation reveals similar histological and molecular changes of tendons/ligaments in patients' biopsies and the mouse models. The mutant COMP fails to oligomerize properly and is trapped in the ER, resulting in ER stress-induced unfolded protein response and cell death, leading to inflammation, progressive fibrosis and cell composition change in tendons/ligaments. The extracellular matrix (ECM) organization is also altered. Our studies uncover a previously unrecognized mechanism in CTS pathogenesis.
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