Topic: Nr2f1 haploinsufficiency

The Bosch-Boonstra-Schaaf optic atrophy syndrome (BBSOAS; OMIN#615722), is a rare neurodevelopmental disorder caused by mutations in the NR2F1 gene, a transcriptional regulator playing pleiotropic functions in brain development. Most NR2F1 pathological variants are deletions and/or mutations leading to haploinsufficiency or dominant negative effects. Although BBSOAS is characterized by a wide array of clinical features, intellectual disability (ID), visual impairment, and autism spectrum disorder (ASD) are predominant. Notably, NR2F1 is identified as a risk gene for ASD (SFARI database), sugge