Novel pathogenic splicing mutation in COL11A1 in a patient with Stickler syndrome verified by minigene splicing assay
We identified a novel acceptor splice site variant causing aberrant splicing of <i>COL11A1</i>. Our findings expand the variant spectrum of this gene and provide a precise genetic diagnosis of STL that could be helpful in genetic counseling, reproductive prevention, and treatment of long-term complications of this disorder.
Authors
- Yafei Deng (ORCID: https://orcid.org/0009-0008-1940-8336)
- Yuanlong Yan
- Yuecheng Yang (ORCID: https://orcid.org/0000-0002-9716-6773)
- Hong Shi (ORCID: https://orcid.org/0000-0002-3491-6127)
- Jie Zhang (ORCID: https://orcid.org/0000-0001-8199-9474)
- Fang Liu (ORCID: https://orcid.org/0000-0002-8325-1213)
- Tao� Lv (ORCID: https://orcid.org/0009-0003-7446-8191)
- Yaxin Huang
- Xiaochun Yang (ORCID: https://orcid.org/0000-0002-0057-0922)
- Ming He (ORCID: https://orcid.org/0000-0003-1469-7534)
Institutions
- Kunming University of Science and Technology (CN)
- Kunming Medical University (CN)
- First People's Hospital of Yunnan Province (CN)
Publication Details
- Journal
- Frontiers in Genetics
- Published
- 2025-08-22
- DOI
- https://doi.org/10.3389/fgene.2025.1642604
- Primary Topic
- Connective tissue disorders research
- Type
- article
- Field-Weighted Citation Impact
- 0.00
Funders
- National Natural Science Foundation of China