A novel GJA3 mutation causing autosomal dominant congenital perinuclear cataracts
This study was the first to identify the c. 671A > G mutation of the GJA3 gene (p.H224R in Cx46), which leads to the generation of congenital perinuclear cataracts. We suggest that the H224R missense mutation of Cx46 may cause alterations in the activity of the hemichannel, leading to cataract development.
Authors
- Nailin Li (ORCID: https://orcid.org/0000-0002-3848-7251)
- Jinyu Li (ORCID: https://orcid.org/0000-0002-8220-049X)
- Wei Wang (ORCID: https://orcid.org/0000-0001-7492-6795)
- Yanan Zhu (ORCID: https://orcid.org/0000-0003-3415-5054)
- Ke Yao
Institutions
- Second Affiliated Hospital of Zhejiang University (CN)
Publication Details
- Journal
- BMC Ophthalmology
- Published
- 2025-04-02
- DOI
- https://doi.org/10.1186/s12886-025-03978-0
- Citations
- 2
- Primary Topic
- Connexins and lens biology
- Type
- article
- Field-Weighted Citation Impact
- 1.61
Funders
- National Natural Science Foundation of China
- Natural Science Foundation of Zhejiang Province