A de novo loss-of-function variant in the NFIB gene was identified in an ASD proband from the Simons Simplex Collection (Iossifov et al., 2014). Schanze et al., 2018 reported 18 individuals haploinsufficent for the NFIB gene (10 individuals with microdeletions affecting NFIB, five individuals with truncating variants, and three individuals with missense variants that resulted in significantly reduced transcriptional activity) that presented with mild intellectual disability or learning disability, speech delay, and macrocephaly; behavioral abnormalities were frequently observed in this cohort, with five cases presenting with ASD or autistic features. NFIB was found to bind to a transcriptional activator containing an ASD-associated intronic haplotype in the EN2 gene (Choi et al., 2012).
Molecular Function
Recognizes and binds the palindromic sequence 5'-TTGGCNNNNNGCCAA-3' present in viral and cellular promoters and in the origin of replication of adenovirus type 2. These proteins are individually capable of activating transcription and replication.
External Links
References
Type
Title
Type of Disorder
Associated Disorders
Author, Year
Primary
The contribution of de novo coding mutations to autism spectrum disorder
