Novel variant in PNPLA6 gene causes Oliver-McFarlane syndrome in a Chinese family: 13 years follow-up
Our findings expand the pathogenic variant spectrum and clinical phenotypic landscape of OMCS. Given the early onset and progressive nature of retinal involvement, we propose that early intervention targeting the preservation of retinal pigment epithelium (RPE) and photoreceptor function may be clinically beneficial.
Authors
- Yutong Xie (ORCID: https://orcid.org/0000-0002-6644-1250)
- Tingting Zuo (ORCID: https://orcid.org/0000-0003-2813-7474)
- Yonghua Gu
- Xunlun Sheng (ORCID: https://orcid.org/0000-0003-4102-3092)
- Shuang Zhang (ORCID: https://orcid.org/0000-0003-2720-2684)
- Ting Li (ORCID: https://orcid.org/0000-0002-9659-301X)
- Panpan Xiao (ORCID: https://orcid.org/0000-0001-8896-0249)
- Xiaolong Qi (ORCID: https://orcid.org/0000-0003-1579-2939)
Institutions
- American Optometric Association (US)
- Ningxia Hui Autonomous Region Peoples Hospital (CN)
- Ningxia Medical University (CN)
- The Fourth People's Hospital of Ningxia Hui Autonomous Region (CN)
Publication Details
- Journal
- Frontiers in Genetics
- Published
- 2025-11-13
- DOI
- https://doi.org/10.3389/fgene.2025.1693876
- Primary Topic
- Protein Tyrosine Phosphatases
- Type
- article
- Field-Weighted Citation Impact
- 0.00