A pathogenic NR2F1 gene variant disrupts transcriptional activity and causes severe neurodevelopmental delay in Bosch-Boonstra-Schaaf syndrome

A pathogenic NR2F1 gene variant disrupts transcriptional activity and causes severe neurodevelopmental delay in Bosch-Boonstra-Schaaf syndrome

Abstract Introduction Nuclear receptor subfamily 2, group F, member 1 (NR2F1) gene variations are associated with Bosch–Boonstra–Schaaf optic atrophy syndrome. The NR2F1 genotype correlates with its phenotype; variants within the DNA-binding domain may cause severe psychomotor developmental disorder...

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Bibliographic Details
Main Authors: Juan Liu, Jihong Hu, Pingqiu Zhou, Yaqin Duan, Shuigui Yin
Format: Article
Language:English
Published: BMC 2025-03-01
Series:Hereditas
Subjects:
NR2F1 variant
BBSOAS
Neurodevelopmental disorders
Optic atrophy
Online Access:https://doi.org/10.1186/s41065-025-00394-8

Internet

https://doi.org/10.1186/s41065-025-00394-8

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