Genotype-phenotype correlations in PSACH/EDM1 patients with COMP gene variants: a comprehensive review of 830 cases
PSACH exhibits more severe phenotypes than EDM1, even with phenotypic overlap. In-frame variants are more strongly associated with PSACH, as the hotspot variant p.Asp473del exclusively identified in PSACH. In contrast, missense variants in T3-4 and T3-5 show a stronger association with EDM1.
Authors
- Di Wu (ORCID: https://orcid.org/0000-0001-9640-0516)
- Liya Wei
- Xia Weibo
- Xiaolin Ni
Institutions
- Chinese Academy of Medical Sciences & Peking Union Medical College (CN)
- Peking Union Medical College Hospital (CN)
- Beijing Children’s Hospital (CN)
Publication Details
- Journal
- Frontiers in Endocrinology
- Published
- 2026-02-19
- DOI
- https://doi.org/10.3389/fendo.2026.1740770
- Primary Topic
- Osteoarthritis Treatment and Mechanisms
- Type
- article
- Field-Weighted Citation Impact
- 0.00