Rare de novo missense variants in the MED12L gene have been observed in ASD probands from simplex families (Iossifov et al., 2014; Yuen et al., 2017). Nizon et al., 2019 described a cohort of seven individuals harboring MED12L variants that presented with developmental delay/intellectual disability; furthermore, four of these individuals also presented with autism spectrum disorder/autistic features.
The protein encoded by this gene is part of the Mediator complex, which is involved in transcriptional coactivation of nearly all RNA polymerase II-dependent genes. The Mediator complex links gene-specific transcriptional activators with the basal transcription machinery.
Type of Disorder
The contribution of de novo coding mutations to autism spectrum disorder.