A pathogenic NR2F1 gene variant disrupts transcriptional activity and causes severe neurodevelopmental delay in Bosch-Boonstra-Schaaf syndrome
The NR2F1 variant c.452T > A (p.Met151Lys) may genetically cause the severe clinical phenotypes observed in this patient. This finding expands the spectrum of NR2F1 variants.
Authors
- Yaqin Duan
- Samuel Yin
- Jihong Hu (ORCID: https://orcid.org/0000-0001-8209-225X)
- Peng Zhou (ORCID: https://orcid.org/0000-0001-5681-9937)
- Juan Liu (ORCID: https://orcid.org/0000-0001-9344-7415)
Institutions
- Central South University (CN)
- Hunan Children's Hospital (CN)
Publication Details
- Journal
- Hereditas
- Published
- 2025-03-01
- DOI
- https://doi.org/10.1186/s41065-025-00394-8
- Primary Topic
- Genetic Syndromes and Imprinting
- Type
- article
- Field-Weighted Citation Impact
- 0.00
Funders
- Natural Science Foundation of Hunan Province