Autism

Gene: NR2F1

Green List (high evidence)

Recent review of 54 affected individuals with Bosch-Boonstra-Schaaf Optic Atrophy Syndrome (BBSOAS): 22 individuals with point mutations or in-frame deletions in the DNA-binding domain (DBD), and 32 individuals with other types of variants including whole-gene deletions, nonsense and frameshift variants, and point mutations outside the DBD. A more severe phenotype appears to be associated with DBD variants. Clinical characteristics include developmental delay, intellectual disability, autism spectrum disorder diagnoses/features thereof, cognitive/behavioral anomalies, hypotonia, feeding difficulties, abnormal brain MRI findings, and seizures. Vision phenotype includes optic nerve hypoplasia, optic atrophy, and cortical visual impairment; rarely, alacrima and latent nystagmus (fusional maldevelopment). The behavioural phenotypic spectrum includes a love of music, an unusually good long-term memory, sleep difficulties, a high pain tolerance, and touch sensitivity.

Created: 7 Sep 2020, 7:59 a.m. | Last Modified: 7 Sep 2020, 7:59 a.m.

Panel Version: 0.111

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Bosch-Boonstra-Schaaf optic atrophy syndrome, MIM# 615722

Publications

• 32275123