Relevance to Autism

De novo missense variants in the SON gene have been identified in ASD probands from the Simons Simplex Collection (Iossifov et al., 2014) and the iHART cohort (Ruzzo et al., 2019). Mutations in the SON gene are also responsible for ZTTK syndrome (OMIM 617140), a severe multisystem developmental disorder characterized by delayed psychomotor development and intellectual disability; autism and autistic features have been observed in a subset of individuals with this disorder (Tokita et al., 2016; Kim et al., 2016).

Molecular Function

This gene encodes a protein that contains multiple simple repeats. The encoded protein binds RNA and promotes pre-mRNA splicing, particularly of transcripts with poor splice sites. The protein also recognizes a specific DNA sequence found in the human hepatitis B virus (HBV) and represses HBV core promoter activity.

External Links

References