Identification and functional characterization of a novel pathogenic COL1A1 splicing variant in a Chinese family with osteogenesis imperfecta
The c.298 + 1G>A variant leads to aberrant splicing and likely haploinsufficiency, consistent with a mild OI phenotype. This study expands the <i>COL1A1</i> mutation spectrum and supports the use of functional assays for clarifying pathogenicity.
Authors
- Hongjuan Nie
- Yongjun Mo
- Peifang Qin
- Yifan Sun (ORCID: https://orcid.org/0000-0001-6205-0837)
- Guiming Xie
- Di Zhang
- Yuanxiong Chen
Institutions
- Central South University (CN)
- Guigang City People's Hospital (CN)
Publication Details
- Journal
- Frontiers in Genetics
- Published
- 2026-02-05
- DOI
- https://doi.org/10.3389/fgene.2026.1758799
- Primary Topic
- Connective tissue disorders research
- Type
- article
- Field-Weighted Citation Impact
- 0.00
Funders
- National Natural Science Foundation of China