Functional analysis of a novel FOXL2 mutation in blepharophimosis, ptosis, and epicanthus inversus syndrome type II and elucidation of the genotype-phenotype correlation
This study provides functional evidence of the pathogenic FOXL2 mutation (c.313 A > C, p.N105H) in BPES type II, demonstrating its disruptive effects on protein localization while maintaining normal transcriptional activity of downstream targets. These findings expand the mutational spectrum of FOXL2 related disorders and enhance our understanding of genotype-phenotype correlations in BPES.
Authors
- Wencan Wu (ORCID: https://orcid.org/0000-0001-8556-1197)
- Bin Shen (ORCID: https://orcid.org/0000-0002-8946-8448)
- Xi Chen (ORCID: https://orcid.org/0000-0002-3958-6905)
- Ziwen Chen (ORCID: https://orcid.org/0000-0001-6270-4431)
- Yulian Fang (ORCID: https://orcid.org/0000-0003-0136-0078)
- Xinyu Li (ORCID: https://orcid.org/0000-0001-9893-8598)
- Qingguo Xie (ORCID: https://orcid.org/0000-0001-5353-2201)
- Xiuying Zhu
- Qin Dai (ORCID: https://orcid.org/0000-0002-5463-5111)
- Min Wang (ORCID: https://orcid.org/0000-0001-5210-5793)
Institutions
- Wenzhou Medical University (CN)
- Affiliated Eye Hospital of Wenzhou Medical College (CN)
Publication Details
- Journal
- Human Genomics
- Published
- 2025-04-18
- DOI
- https://doi.org/10.1186/s40246-025-00752-7
- Primary Topic
- Genetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities
- Type
- article
- Field-Weighted Citation Impact
- 0.00
Funders
- Wenzhou Medical University
- National Natural Science Foundation of China
- Science and Technology Plan Project of Wenzhou, China
- Natural Science Foundation of Zhejiang Province