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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.

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References

Type
Title
Type of Disorder
Associated Disorders
Author, Year
Primary
Large-Scale Exome Sequencing Study Implicates Both Developmental and Functional Changes in the Neurobiology of Autism
ASD
Support
X-exome sequencing of 405 unresolved families identifies seven novel intellectual disability genes
ID
ASD, epilepsy/seizures
Recent Recommendation
ASD, ID
Epilepsy/seizures

Rare

Variant ID
Variant Type
Allele Change
Residue Change
Inheritance Pattern
Inheritance Association
Family Type
Author, Year
 GEN1365R001 
 stop_gained 
 c.46C>T 
 p.Arg16Ter 
 De novo 
  
  
 GEN1365R002 
 frameshift_variant 
 c.976_977del 
 p.Asp326Ter 
 Familial 
 Maternal 
 Extended multiplex 
 GEN1365R003 
 missense_variant 
 c.1039G>T 
 p.Gly347Cys 
 Familial 
 Maternal 
 Extended multiplex 
 GEN1365R004 
 stop_gained 
 c.961G>T 
 p.Glu321Ter 
 Unknown 
  
 Simplex 

Common

No Common Variants Available
Chromosome
CNV Locus
CNV Type
# of studies
Animal Model
X
Duplication
 1
 
X
Deletion
 1
 
X
Deletion
 2
 
X
Deletion
 4
 
X
Deletion-Duplication
 1
 
X
Deletion
 1
 
X
Deletion
 1
 
X
Deletion-Duplication
 21
 

No Animal Model Data Available

No PIN Data Available
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