A genetic investigation in five Chinese families with keratoconus
Five novel variants in <i>HOMER3, IGF1R, EML6, DOP1B</i>, and <i>NBEAL2</i> genes were identified in this study and may be associated with the pathogenesis of KC. This study provides new information about the gene variants and their protein changes in KC patients. The findings should be explored further and could potentially be applied to the early diagnosis of KC before clinical onset.
Authors
- Qinghong Lin
- Xuejun Wang (ORCID: https://orcid.org/0000-0002-7034-0460)
- Xingtao Zhou (ORCID: https://orcid.org/0000-0003-4943-7740)
- Xiaoliao Peng
- Tian Han (ORCID: https://orcid.org/0000-0003-3867-9373)
- Ling Sun (ORCID: https://orcid.org/0000-0002-7061-7909)
- Xiaoyu Zhang (ORCID: https://orcid.org/0000-0002-1752-5482)
Institutions
- Chinese Academy of Medical Sciences & Peking Union Medical College (CN)
- Fudan University (CN)
- Eye & ENT Hospital of Fudan University (CN)
- He Eye Hospital (CN)
Publication Details
- Journal
- PeerJ
- Published
- 2024-09-02
- DOI
- https://doi.org/10.7717/peerj.18037
- Primary Topic
- Glaucoma and retinal disorders
- Type
- article
- Field-Weighted Citation Impact
- 0.00
Funders
- National Natural Science Foundation of China