Calpena et al., 2019 reported eight different heterozygous missense variants in the CDK8 gene in twelve unrelated subjects presenting with a syndromic developmental disorder characterized by overlapping phenotypes including hypotonia, intellectual disability, behavioral disorders, variable facial dysmorphism, and congenital heart disease; seven of ten of the older individuals in this cohort had formal diagnoses of autism spectrum disorder and/or ADHD.
Molecular Function
This gene encodes a member of the cyclin-dependent protein kinase (CDK) family. CDK family members are known to be important regulators of cell cycle progression. This kinase and its regulatory subunit, cyclin C, are components of the Mediator transcriptional regulatory complex, involved in both transcriptional activation and repression by phosphorylation of the carboxy-terminal domain of the largest subunit of RNA polymerase II. This kinase regulates transcription by targeting the cyclin-dependent kinase 7 subunits of the general transcription initiation factor IIH, thus providing a link between the Mediator complex and the basal transcription machinery.
External Links
References
Type
Title
Type of Disorder
Associated Disorders
Author, Year
Primary
De Novo Missense Substitutions in the Gene Encoding CDK8, a Regulator of the Mediator Complex, Cause a Syndromic Developmental Disorder.
