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Relevance to Autism

Two rare de novo missense variants in the CSNK2A1 gene have been identified in ASD probands from simplex families from the Simons Simplex Collection (Iossifov et al., 2014) and the ASD: Genomes to Outcome Study cohort (Yuen et al., 2017). Heterozygous variants in the CSNK2A1 gene are also responsible for Okur-Chung neurodevelopmental syndrome (OMIM 617062), an autosomal dominant disorder characterized by delayed psychomotor development, intellectual disability with poor speech, behavioral abnormalities, cortical malformations in some patients, and variable dysmorphic facial features; autistic features and/or stereotypy has been reported in a subset of affected individuals (Okur et al., 2016; Trinh et al., 2017; Chiu et al., 2018; Owen et al., 2018, Martinez-Monseny et al., 2020).

Molecular Function

Casein kinase II is a serine/threonine protein kinase that phosphorylates acidic proteins such as casein. It is involved in various cellular processes, including cell cycle control, apoptosis, and circadian rhythm. The kinase exists as a tetramer and is composed of an alpha, an alpha-prime, and two beta subunits. The alpha subunits contain the catalytic activity while the beta subunits undergo autophosphorylation. The protein encoded by this gene represents the alpha subunit.

External Links

        

References

Type
Title
Type of Disorder
Associated Disorders
Author, Year
Primary
The contribution of de novo coding mutations to autism spectrum disorder
ASD
Support
Dual molecular diagnosis of tricho-rhino-phalangeal syndrome type I and Okur-Chung neurodevelopmental syndrome in one Chinese patient: a case report
Okur-Chung neurodevelopmental syndrome, DD, ID
Impaired social interactions
Support
A novel de novo mutation in CSNK2A1: reinforcing the link to neurodevelopmental abnormalities and dysmorphic features
Okur-Chung neurodevelopmental syndrome, DD, ID
Autistic features
Support
Overrepresentation of genetic variation in the AnkyrinG interactome is related to a range of neurodevelopmental disorders
DD
ASD, epilepsy/seizures
Support
DD
Support
Whole genome sequencing resource identifies 18 new candidate genes for autism spectrum disorder
ASD
Support
Okur-Chung neurodevelopmental syndrome in a patient from Spain
Okur-Chung neurodevelopmental syndrome, DD, ID
Stereotypy
Support
De novo mutations in CSNK2A1 are associated with neurodevelopmental abnormalities and dysmorphic features
Okur-Chung neurodevelopmental syndrome, DD, ID
ADHD, epilepsy/seizures, stereotypy
Support
Identification of de novo CSNK2A1 and CSNK2B variants in cases of global developmental delay with seizures
DD, epilepsy/seizures
ID
Support
The Okur-Chung Neurodevelopmental Syndrome Mutation CK2 K198R Leads to a Rewiring of Kinase Specificity
Okur-Chung neurodevelopmental syndrome
Support
Refining the clinical phenotype of Okur-Chung neurodevelopmental syndrome
Okur-Chung neurodevelopmental syndrome, DD, ID
Support
Mutational Landscape of Autism Spectrum Disorder Brain Tissue
ASD
Support
Extending the phenotype associated with the CSNK2A1-related Okur-Chung syndrome-A clinical study of 11 individuals
Okur-Chung neurodevelopmental syndrome, ID
Autistic features, stereotypy
Support
Large-scale targeted sequencing identifies risk genes for neurodevelopmental disorders
ASD, DD
Support
Okur-Chung neurodevelopmental syndrome: Eight additional cases with implications on phenotype and genotype expansion
Okur-Chung neurodevelopmental syndrome, DD, ID
ASD or autistic features, stereotypy, epilepsy/sei
Recent Recommendation
Okur-Chung neurodevelopmental syndrome-linked CK2α variants have reduced kinase activity
Okur-Chung neurodevelopmental syndrome
ASD
Variant ID
Variant Type
Allele Change
Residue Change
Inheritance Pattern
Inheritance Association
Family Type
Author, Year
 GEN1196R001 
 missense_variant 
 c.593A>G 
 p.Lys198Arg 
 De novo 
  
 Simplex 
 GEN1196R002 
 missense_variant 
 c.79G>A 
 p.Glu27Lys 
 De novo 
  
 Simplex 
 GEN1196R003 
 missense_variant 
 c.593A>G 
 p.Lys198Arg 
 De novo 
  
 Simplex 
 GEN1196R004 
 missense_variant 
 c.479A>G 
 p.His160Arg 
 De novo 
  
 Simplex 
 GEN1196R005 
 missense_variant 
 c.140G>A 
 p.Arg47Gln 
 De novo 
  
  
 GEN1196R006 
 missense_variant 
 c.593A>G 
 p.Lys198Arg 
 De novo 
  
  
 GEN1196R007 
 missense_variant 
 c.524A>G 
 p.Asp175Gly 
 De novo 
  
  
 GEN1196R008 
 splice_site_variant 
 c.824+2T>C 
  
 De novo 
  
  
 GEN1196R009 
 missense_variant 
 c.149A>C 
 p.Tyr50Ser 
 De novo 
  
  
 GEN1196R010 
 missense_variant 
 c.466G>C 
 p.Asp156His 
 De novo 
  
 Simplex 
 GEN1196R011 
 missense_variant 
 c.593A>G 
 p.Lys198Arg 
 De novo 
  
  
 GEN1196R012 
 missense_variant 
 c.692C>G 
 p.Pro231Arg 
 De novo 
  
  
 GEN1196R013 
 missense_variant 
 c.79G>A 
 p.Glu27Lys 
 De novo 
  
  
 GEN1196R014 
 missense_variant 
 c.1A>G 
 p.Met1? 
 De novo 
  
  
 GEN1196R015 
 missense_variant 
 c.218T>A 
 p.Val73Glu 
 De novo 
  
  
 GEN1196R016 
 missense_variant 
 c.140G>A 
 p.Arg47Gln 
 De novo 
  
  
 GEN1196R017 
 missense_variant 
 c.935G>A 
 p.Arg312Gln 
 De novo 
  
  
 GEN1196R018 
 missense_variant 
 c.151A>C 
 p.Ser51Arg 
 De novo 
  
  
 GEN1196R019 
 missense_variant 
 c.140G>A 
 p.Arg47Gln 
 De novo 
  
  
 GEN1196R020 
 missense_variant 
 c.152G>A 
 p.Ser51Asn 
 De novo 
  
  
 GEN1196R021 
 missense_variant 
 c.239G>A 
 p.Arg80His 
 De novo 
  
  
 GEN1196R022 
 missense_variant 
 c.522A>G 
 p.Ile174Met 
 De novo 
  
  
 GEN1196R023 
 missense_variant 
 c.572G>A 
 p.Arg191Gln 
 De novo 
  
  
 GEN1196R024 
 missense_variant 
 c.589T>A 
 p.Phe197Ile 
 De novo 
  
  
 GEN1196R025 
 missense_variant 
 c.593A>G 
 p.Lys198Arg 
 De novo 
  
  
 GEN1196R026 
 missense_variant 
 c.593A>G 
 p.Lys198Arg 
 De novo 
  
  
 GEN1196R027 
 missense_variant 
 c.593A>G 
 p.Lys198Arg 
 De novo 
  
  
 GEN1196R028 
 missense_variant 
 c.593A>G 
 p.Lys198Arg 
 De novo 
  
  
 GEN1196R029 
 missense_variant 
 c.934C>T 
 p.Arg312Trp 
 De novo 
  
  
 GEN1196R030 
 missense_variant 
 c.593A>G 
 p.Lys198Arg 
 De novo 
  
 Simplex 
 GEN1196R031 
 missense_variant 
 c.593A>G 
 p.Lys198Arg 
 De novo 
  
  
 GEN1196R032 
 stop_gained 
 c.571C>T 
 p.Arg191Ter 
 De novo 
  
  
 GEN1196R033 
 missense_variant 
 c.149A>G 
 p.Tyr50Cys 
 De novo 
  
  
 GEN1196R034 
 missense_variant 
 c.593A>G 
 p.Lys198Arg 
 Familial 
 Paternal 
 Simplex 
 GEN1196R035 
 splice_site_variant 
 c.973+1G>C 
  
 De novo 
  
  
 GEN1196R036 
 missense_variant 
 c.116A>G 
 p.Tyr39Cys 
 De novo 
  
  
 GEN1196R037 
 stop_gained 
 c.916C>T 
 p.Arg306Ter 
 De novo 
  
  
 GEN1196R038 
 missense_variant 
 c.440G>A 
 p.Cys147Tyr 
 Unknown 
  
  
 GEN1196R039 
 splice_site_variant 
 c.973+1G>A 
  
 Unknown 
  
  
 GEN1196R040 
 stop_gained 
 c.319C>T 
 p.Arg107Ter 
 Unknown 
  
  
 GEN1196R041 
 stop_gained 
 c.571C>T 
 p.Arg191Ter 
 Unknown 
  
  
 GEN1196R042 
 stop_gained 
 c.583C>T 
 p.Arg195Ter 
 Unknown 
 Not maternal 
  
 GEN1196R043 
 missense_variant 
 c.152G>T 
 p.Ser51Ile 
 Unknown 
  
  
 GEN1196R044 
 missense_variant 
 c.298A>G 
 p.Ile100Val 
 Unknown 
  
  
 GEN1196R045 
 missense_variant 
 c.593A>G 
 p.Lys198Arg 
 De novo 
  
  
 GEN1196R046 
 missense_variant 
 c.538G>A 
 p.Glu180Lys 
 Unknown 
  
  
  et al.  
Chromosome
CNV Locus
CNV Type
# of studies
Animal Model
20
Deletion-Duplication
 33
 
20
Duplication
 1
 
20
Duplication
 1
 
20
Duplication
 1
 
20
Duplication
 3
 
20
Duplication
 1
 

No Animal Model Data Available

 

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