Relevance to Autism

Two de novo variants in the SETD1B gene (an inframe deletion variant and a missense variant) were identified in ASD probands from the Simons Simplex Collection in Iossifov et al., 2014. SETD1B has been implicated as a candidate gene in 12q24.31 microdeletion syndrome, a disorder characterized by intellectual disability, autism/autistic features, epilepsy, and facial dysmorphic features (Baple et al., 2010; Qiao et al., 2013; Palumbo et al., 2015; Labonne et al., 2016). Hiraide et al., 2018 identified two individuals with novel de novo SETD1B missense variants, both of whom were diagnosed with autism/ASD and presented with intellectual disability, language delay, and epilepsy.

Molecular Function

SET1B is a component of a histone methyltransferase complex that produces trimethylated histone H3 at Lys4; H3 'Lys-4' methylation represents a specific tag for epigenetic transcriptional activation.

External Links

References