Relevance to Autism

A de novo nonsense variant in the CDK16 gene was identified in a male ASD proband from the Autism Sequencing Consortium in Satterstrom et al., 2020. A maternally-inherited frameshift variant in the CDK16 gene had previously been found to segregate with intellectual disability and spasticity in four males from an extended multiplex family in Hu et al., 2016; Leitao et al., 2022 subsequently reported that affected males in this family also presented with ASD and absence seizures. Leitao et al., 2022 also identified two previously unreported individuals with CDK16 variants: a 42-year-old male patient with intellectual disability and spasticity with a CDK16 nonsense variant; and a male patient with ASD, intellectual disability, and epilepsy from a family whose history was compatible with X-linked inheritance with a potentially deleterious missense variant.

Molecular Function

The protein encoded by this gene belongs to the cdc2/cdkx subfamily of the ser/thr family of protein kinases. It may play a role in signal transduction cascades in terminally differentiated cells; in exocytosis; and in transport of secretory cargo from the endoplasmic reticulum. This gene is thought to escape X inactivation.

External Links

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