A rare de novo missense variant in the CDK19 gene was identified in an ASD proband from the Simons Simplex Collection in Iossifov et al., 2014, while a de novo nonsense variant in this gene was observed in an ASD proband from the Autism Sequencing Consortium in Satterstrom et al., 2020. De novo missense variants in the CDK19 gene have been shown to cause a form of developmental and epileptic encephalopathy (DEE87; OMIM 618916); autism have been observed in a subset of affected individuals (Chung et al., 2020; Zarate et al., 2021). Furthermore, several recurrent CDK19 missense variants described in Chung et al., 2020 and Zarate et al., 2021 (p.Gly28Arg, p.Tyr32His, and p.Thr196Ala) were shown to exhibit significant functional effects in in vivo model systems.
Molecular Function
This gene encodes a protein that is one of the components of the Mediator co-activator complex. The Mediator complex is a multi-protein complex required for transcriptional activation by DNA binding transcription factors of genes transcribed by RNA polymerase II. The protein encoded by this gene is similar to cyclin-dependent kinase 8 which can also be a component of the Mediator complex.
External Links
References
Type
Title
Type of Disorder
Associated Disorders
Author, Year
Primary
The contribution of de novo coding mutations to autism spectrum disorder
