Novel mutation in CNNM4 gene in a Chinese family with Jalili syndrome and literature review
This study reports a novel homozygous missense variant c.949A>C (p.Ser317Arg) in <i>CNNM4</i> in a Chinese JS family. Visual acuity in JS patients deteriorates with increasing age.
Authors
- Run Gan
- Jing Lü (ORCID: https://orcid.org/0000-0001-6744-7833)
- Zhijiang Li (ORCID: https://orcid.org/0000-0001-9712-2220)
- Xiaorong Cheng (ORCID: https://orcid.org/0000-0002-4498-5468)
- Qingshan Chen (ORCID: https://orcid.org/0000-0001-6098-2120)
Institutions
- Southern Medical University Shenzhen Hospital (CN)
Publication Details
- Journal
- International Journal of Ophthalmology
- Published
- 2025-11-17
- DOI
- https://doi.org/10.18240/ijo.2025.12.18
- Primary Topic
- Glycogen Storage Diseases and Myoclonus
- Type
- article
- Field-Weighted Citation Impact
- 0.00