Case Report: A de novo NR2F1 mutation and clinical characteristics of Bosch–Boonstra–Schaaf optic atrophy syndrome in a Chinese patient
Our report demonstrated the pathogenicity of a variant in the NR2F1 gene, which was previously classified as a variant of uncertain significance or as a likely pathogenic variant, along with a detailed phenotypic characterization. The clinical features and treatment outcomes described here may expand the spectrum of known NR2F1 variants and serve as a reference for understanding this rare disease.
Authors
- Bin Tang (ORCID: https://orcid.org/0000-0001-6096-0837)
- Jie Zhu (ORCID: https://orcid.org/0000-0001-6862-9022)
- Daoman Xiang (ORCID: https://orcid.org/0000-0002-3474-8346)
- Wenqi Su (ORCID: https://orcid.org/0000-0001-5453-2078)
- Shuyu Tang
- T. Jiang
Institutions
- Xijing Hospital (CN)
- Guangzhou Medical University (CN)
- Air Force Medical University (CN)
Publication Details
- Journal
- Frontiers in Medicine
- Published
- 2025-07-16
- DOI
- https://doi.org/10.3389/fmed.2025.1542548
- Primary Topic
- Cerebrovascular and genetic disorders
- Type
- article
- Field-Weighted Citation Impact
- 0.00
Funders
- Natural Science Foundation of Guangdong Province