Human Gene Module / Chromosome 20 / CSNK2A1

CSNK2A1casein kinase 2 alpha 1

Score
1
High Confidence Criteria 1.1
Autism Reports / Total Reports
3 / 12
Rare Variants / Common Variants
40 / 0
Aliases
CSNK2A1, CK2A1,  CKII,  Cka1,  Cka2,  OCNDS
Associated Syndromes
Okur-Chung neurodevelopmental syndrome, DD, ID, Okur-Chung neurodevelopmental syndrome, ID
Genetic Category
Rare Single Gene Mutation, Syndromic
Chromosome Band
20p13
Associated Disorders
ID, ASD, ADHD, EPS
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.

Reports related to CSNK2A1 (12 Reports)
# Type Title Author, Year Autism Report Associated Disorders
1 Primary The contribution of de novo coding mutations to autism spectrum disorder Iossifov I et al. (2014) Yes -
2 Support De novo mutations in CSNK2A1 are associated with neurodevelopmental abnormalities and dysmorphic features Okur V et al. (2016) No ADHD, epilepsy/seizures, stereotypy
3 Support Whole genome sequencing resource identifies 18 new candidate genes for autism spectrum disorder C Yuen RK et al. (2017) Yes -
4 Support A novel de novo mutation in CSNK2A1: reinforcing the link to neurodevelopmental abnormalities and dysmorphic features Trinh J et al. (2017) No Autistic features
5 Support Okur-Chung neurodevelopmental syndrome: Eight additional cases with implications on phenotype and genotype expansion Chiu ATG et al. (2018) No ASD or autistic features, stereotypy, epilepsy/sei
6 Support Extending the phenotype associated with the CSNK2A1-related Okur-Chung syndrome-A clinical study of 11 individuals Owen CI et al. (2018) No Autistic features, stereotypy
7 Support Refining the clinical phenotype of Okur-Chung neurodevelopmental syndrome Akahira-Azuma M et al. (2018) No -
8 Support Identification of de novo CSNK2A1 and CSNK2B variants in cases of global developmental delay with seizures Nakashima M et al. (2019) No ID
9 Support Okur-Chung neurodevelopmental syndrome in a patient from Spain Martinez-Monseny AF et al. (2020) No Stereotypy
10 Support Overrepresentation of genetic variation in the AnkyrinG interactome is related to a range of neurodevelopmental disorders van der Werf IM et al. (2020) No ASD, epilepsy/seizures
11 Support Dual molecular diagnosis of tricho-rhino-phalangeal syndrome type I and Okur-Chung neurodevelopmental syndrome in one Chinese patient: a case report Xu S et al. (2020) No Impaired social interactions
12 Support Large-scale targeted sequencing identifies risk genes for neurodevelopmental disorders Wang T et al. (2020) Yes -
Rare Variants   (40)
Status Allele Change Residue Change Variant Type Inheritance Pattern Parental Transmission Family Type PubMed ID Author, Year
c.973+1G>A - splice_site_variant Unknown - - 33004838 Wang T et al. (2020)
c.319C>T p.Arg107Ter stop_gained Unknown - - 33004838 Wang T et al. (2020)
c.571C>T p.Arg191Ter stop_gained Unknown - - 33004838 Wang T et al. (2020)
c.824+2T>C - splice_site_variant De novo NA - 27048600 Okur V et al. (2016)
c.973+1G>C - splice_site_variant De novo NA - 33004838 Wang T et al. (2020)
c.916C>T p.Arg306Ter stop_gained De novo NA - 33004838 Wang T et al. (2020)
c.1A>G p.Met1? missense_variant De novo NA - 29240241 Chiu ATG et al. (2018)
c.152G>T p.Ser51Ile missense_variant Unknown - - 33004838 Wang T et al. (2020)
c.440G>A p.Cys147Tyr missense_variant Unknown - - 33004838 Wang T et al. (2020)
c.140G>A p.Arg47Gln missense_variant De novo NA - 27048600 Okur V et al. (2016)
c.149A>C p.Tyr50Ser missense_variant De novo NA - 27048600 Okur V et al. (2016)
c.116A>G p.Tyr39Cys missense_variant De novo NA - 33004838 Wang T et al. (2020)
c.524A>G p.Asp175Gly missense_variant De novo NA - 27048600 Okur V et al. (2016)
c.593A>G p.Lys198Arg missense_variant De novo NA - 27048600 Okur V et al. (2016)
c.140G>A p.Arg47Gln missense_variant De novo NA - 29383814 Owen CI et al. (2018)
c.152G>A p.Ser51Asn missense_variant De novo NA - 29383814 Owen CI et al. (2018)
c.239G>A p.Arg80His missense_variant De novo NA - 29383814 Owen CI et al. (2018)
c.79G>A p.Glu27Lys missense_variant De novo NA - 29240241 Chiu ATG et al. (2018)
c.571C>T p.Arg191Ter stop_gained De novo NA - 30655572 Nakashima M et al. (2019)
c.522A>G p.Ile174Met missense_variant De novo NA - 29383814 Owen CI et al. (2018)
c.572G>A p.Arg191Gln missense_variant De novo NA - 29383814 Owen CI et al. (2018)
c.589T>A p.Phe197Ile missense_variant De novo NA - 29383814 Owen CI et al. (2018)
c.593A>G p.Lys198Arg missense_variant De novo NA - 29383814 Owen CI et al. (2018)
c.934C>T p.Arg312Trp missense_variant De novo NA - 29383814 Owen CI et al. (2018)
c.140G>A p.Arg47Gln missense_variant De novo NA - 29240241 Chiu ATG et al. (2018)
c.151A>C p.Ser51Arg missense_variant De novo NA - 29240241 Chiu ATG et al. (2018)
c.218T>A p.Val73Glu missense_variant De novo NA - 29240241 Chiu ATG et al. (2018)
c.593A>G p.Lys198Arg missense_variant De novo NA - 29240241 Chiu ATG et al. (2018)
c.692C>G p.Pro231Arg missense_variant De novo NA - 29240241 Chiu ATG et al. (2018)
c.935G>A p.Arg312Gln missense_variant De novo NA - 29240241 Chiu ATG et al. (2018)
c.583C>T p.Arg195Ter stop_gained Unknown Not maternal - 33004838 Wang T et al. (2020)
c.593A>G p.Lys198Arg missense_variant De novo NA - 30655572 Nakashima M et al. (2019)
c.466G>C p.Asp156His missense_variant De novo NA Simplex 28725024 Trinh J et al. (2017)
c.79G>A p.Glu27Lys missense_variant De novo NA Simplex 28263302 C Yuen RK et al. (2017)
c.593A>G p.Lys198Arg missense_variant De novo NA Simplex 25363768 Iossifov I et al. (2014)
c.593A>G p.Lys198Arg missense_variant Familial Paternal Simplex 32746809 Xu S et al. (2020)
c.149A>G p.Tyr50Cys missense_variant De novo NA - 31729156 Martinez-Monseny AF et al. (2020)
c.593A>G p.Lys198Arg missense_variant De novo NA Simplex 29619237 Akahira-Azuma M et al. (2018)
c.479A>G p.His160Arg missense_variant De novo NA Simplex 32651551 van der Werf IM et al. (2020)
c.593A>G p.Lys198Arg missense_variant De novo NA Simplex 32651551 van der Werf IM et al. (2020)
Common Variants  

No common variants reported.

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