Relevance to Autism

Heterozygous mutations in the CDK13 gene are associated with congenital heart defects, dysmorphic facial features, and intellectual developmental disorder (CHDFIDD; OMIM 617360) (Sifrim et al., 2016; Bostwick et al., 2017). Phenotypic characterization of 16 individuals with heterozygous CDK13 variants in Hamilton et al., 2017 demonstrated that, in addition to previously identified phenotypes such as developmental delay, structural cardiac anomalies, and dysmorphic features, six patients had a diagnosis of autism spectrum disorder, while an additional two patients displayed autistic traits or stereotypies. A de novo missense variant that was predicted to be damaging was identified in an ASD proband from the Simons Simplex Collection in Iossifov et al., 2014.

Molecular Function

The protein encoded by this gene is a member of the cyclin-dependent serine/threonine protein kinase family. Cyclin-dependent kinase which displays CTD kinase activity and is required for RNA splicing. Has CTD kinase activity by hyperphosphorylating the C-terminal heptapeptide repeat domain (CTD) of the largest RNA polymerase II subunit RPB1, thereby acting as a key regulator of transcription elongation. Required for RNA splicing, probably by phosphorylating SRSF1/SF2.

External Links

References