De novo deletions encompassing the NR4A2 gene were identified in three unrelated individuals with developmental delay/intellectual disability and language delay/impairment, two of whom also met DSM-5 criteria for a diagnosis of ASD, in Levy et al., 2018; in contrast, no CNVs encompassing this gene were reported in the Database of Genomic Variants (DGV). De novo deletions affecting this gene had previously been identified in individuals with intellectual disability and language delay/impairment (one of whom was also diagnosed with ASD) in three separate reports (Barge-Schaapveld et al., 2013; Leppa et al., 2016; Reuter et al., 2017). A de novo damaging missense variant in the NR4A2 gene was observed in an ASD proband from the Simons Simplex Collection (O'Roak et al., 2012).
Molecular Function
This gene encodes a member of the steroid-thyroid hormone-retinoid receptor superfamily. The encoded protein may act as a transcription factor. Mutations in this gene have been associated with disorders related to dopaminergic dysfunction, including Parkinson disease, schizophernia, and manic depression.
External Links
References
Type
Title
Type of Disorder
Associated Disorders
Author, Year
Primary
NR4A2 haploinsufficiency is associated with intellectual disability and autism spectrum disorder.
