Relevance to Autism

One of the six patients with Bosch-Boonstra-Schaaf optic atrophy syndrome described in Bosch et al., 2014 presented with autism spectrum disorder with marked obsessive-compulsive behaviors. Evaluation of the clinical features of 20 individuals with novel pathogenic NR2F1 variants demonstrated that, in addition to visual and cognitive deficits, individuals with BBSOAS manifested hypotonia (75%), seizures (40%), repetitive behavior (40%), autism spectrum disorder (35%), oromotor dysfunction (60%), thinning of the corpus callosum (53%), and hearing defects (20%) (Chen et al., 2016). De novo probably damaging missense variants in NR2F1 have also been observed in two ASD probands: one from the Simons Simplex Collection (Sanders et al., 2012), the other from the Autism Sequencing Consortium (De Rubeis et al., 2014).

Molecular Function

The protein encoded by this gene is a nuclear hormone receptor and transcriptional regulator that binds to 5'-AGGTCA-3' repeats. Heterozygous mutations in this gene are a cause of Bosch-Boonstra-Schaaf optic atrophy syndrome (BBSOAS; OMIM 615722), an autosomal dominant disorder characterized by delayed development, moderate intellectual disability, and optic atrophy (Bosch et al., 2014).

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Model Summary

Mouse Nr2f1 gene is involved in both dorsal and ventral telencephalic development. Nr2f1 heterozygous mice show E/I imbalance of neurons in the primary somatosensory cortex, impaired social interaction, impaired social memory, repetitive self-grooming, anxiety, decreaded spatial memory, no change in motor coordination. Treatment with GinkgolideA in adult mice, restored sociability, social memory, ameliorated self-grooming, improved spatial memory, decreased anxiety, in the short but not long term.

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