De novo variant in GUCY2D gene causing atypical cone-rod dystrophy in a consanguineous family and literature review
The <i>de novo</i> variant causing atypical autosomal dominant CRD is identified in a Chinese consanguineous family and this variant passes through this family in an autosomal dominant mode of inheritance, revealing the complex diversity and unpredictability of the inheritance mode for common single-gene genetic disease.
Authors
- Xueli Wu
- Xinhe Fang (ORCID: https://orcid.org/0000-0002-9784-2356)
- Yuanyuan Lian (ORCID: https://orcid.org/0000-0001-7072-351X)
- Zou Wen-qing
- Ruihua Wei (ORCID: https://orcid.org/0000-0002-9708-0355)
- Mei-Jiao Ma
- Xunlun Sheng (ORCID: https://orcid.org/0000-0003-4102-3092)
- Zhu Dejun
Institutions
- Ningxia Hui Autonomous Region Peoples Hospital (CN)
- Gansu Provincial Hospital (CN)
- Ningxia Medical University (CN)
- Ningxia Medical University General Hospital (CN)
- Tianjin Medical University Eye Hospital (CN)
- The Fourth People's Hospital of Ningxia Hui Autonomous Region (CN)
- Tianjin Medical University (CN)
Publication Details
- Journal
- International Journal of Ophthalmology
- Published
- 2025-06-20
- DOI
- https://doi.org/10.18240/ijo.2025.07.08
- Primary Topic
- Ocular Disorders and Treatments
- Type
- article
- Field-Weighted Citation Impact
- 0.00
Funders
- National Natural Science Foundation of China
- Natural Science Foundation of Ningxia Province