5′ UTR variant in the NDP gene leads to incorrect splicing and familial exudative vitreoretinopathy
A likely pathogenic variant was identified in 5'UTR of the NDP gene, and validation confirmed its impact on NDP splicing. The present analysis results also indicate a correlation between the location of the variations in 5'UTR and disease, providing assistance in disease prognosis.
Authors
- Leyi Chen (ORCID: https://orcid.org/0000-0002-7090-3788)
- Ke Xiong (ORCID: https://orcid.org/0000-0001-5290-3306)
- Yihong Li (ORCID: https://orcid.org/0000-0002-5476-1943)
- Siping Liu (ORCID: https://orcid.org/0000-0001-9143-7694)
- Bei Jia (ORCID: https://orcid.org/0000-0002-5406-0506)
- Xin Jiang (ORCID: https://orcid.org/0000-0001-7007-0483)
- Lijun Tang (ORCID: https://orcid.org/0000-0002-8663-4228)
Institutions
- Nanfang Hospital (CN)
- Southern Medical University (CN)
Publication Details
- Journal
- Orphanet Journal of Rare Diseases
- Published
- 2025-10-31
- DOI
- https://doi.org/10.1186/s13023-025-03724-1
- Primary Topic
- Retinal Development and Disorders
- Type
- article
- Field-Weighted Citation Impact
- 0.00
Funders
- Southern Medical University
- Nanfang Hospital