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Relevance to Autism

"Analysis of de novo variants identified in patients from the Deciphering Developmental Disorders (DDD) Study cohort, along with meta-analysis of probands from previously published studies, identified CNKSR2 as a gene exceeding genome-wide significance (P<7.0E-07) (Deciphering Developmental Disorders Study, 2017). Of the five cases with de novo loss-of-function variants in the CNKSR2 gene from the DDD cohort, two (DECIPHER IDs 260220 and 266616) were reported to have the Human Phenotype Ontology (HPO) term ""Autism spectrum disorder""."

Molecular Function

This gene encodes a multidomain protein that functions as a scaffold protein to mediate the mitogen-activated protein kinase pathways downstream from Ras. This gene product is induced by vitamin D and inhibits apoptosis in certain cancer cells. It may also play a role in ternary complex assembly of synaptic proteins at the postsynaptic membrane and coupling of signal transduction to membrane/cytoskeletal remodeling.

External Links

        

References

Type
Title
Type of Disorder
Associated Disorders
Author, Year
Primary
Prevalence and architecture of de novo mutations in developmental disorders
DD
ASD
Support
Genetic and Phenotype Analysis of a Chinese Cohort of Infants and Children With Epilepsy
Epilepsy/seizures
Support
Novel Digital Anomalies, Hippocampal Atrophy, and Mutations Expand the Genotypic and Phenotypic Spectra of CNKSR2 in the Houge Type of X-Linked Syndromic Intellectual Development Disorder (MRXSHG)
DD, ID, epilepsy/seizures
ASD, ADHD
Support
A de novo variant in the X-linked gene CNKSR2 is associated with seizures and mild intellectual disability in a female patient.
DD, ID, epilepsy/seizures
Support
The synaptic scaffolding protein CNKSR2 interacts with CYTH2 to mediate hippocampal granule cell development
Support
Genome Sequencing Identifies 13 Novel Candidate Risk Genes for Autism Spectrum Disorder in a Qatari Cohort
ASD
DD
Support
CNKSR2 mutation causes the X-linked epilepsy-aphasia syndrome: A case report and review of literature.
ASD, ADHD, DD, ID, epilepsy/seizures
Support
Prevalence and phenotypic impact of rare potentially damaging variants in autism spectrum disorder
ASD
Support
The application of whole-exome sequencing in the early diagnosis of rare genetic diseases in children: a study from Southeastern China
ID, epilepsy/seizures
Support
Absent CNKSR2 causes seizures and intellectual, attention, and language deficits.
Houge-type X-linked syndromic mental retardation (
ID, epilepsy/seizures
Support
Cnksr2 Loss in Mice Leads to Increased Neural Activity and Behavioral Phenotypes of Epilepsy-Aphasia Syndrome
Epilepsy/seizures
Support
CNKSR2 interactome analysis indicates its association with the centrosome/microtubule system
Support
Loss-of-Function CNKSR2 Mutation Is a Likely Cause of Non-Syndromic X-Linked Intellectual Disability.
Houge-type X-linked syndromic mental retardation (
ID, epilepsy/seizures, ADHD
Support
CNKSR2-related neurodevelopmental and epilepsy disorder: a cohort of 13 new families and literature review indicating a predominance of loss of function pathogenic variants
DD, ID, epilepsy/seizures
ASD, ADHD
Support
Hemizygous splicing variant in CNKSR2 results in X-linked intellectual developmental disorder
DD
ADHD, epilepsy/seizures
Support
Large-scale targeted sequencing identifies risk genes for neurodevelopmental disorders
ASD, DD
Support
Yield of exome sequencing in patients with developmental and epileptic encephalopathies and inconclusive targeted gene panel
ID, epilepsy/seizures
Support
A recurrent PJA1 variant in trigonocephaly and neurodevelopmental disorders
ASD, DD

Rare

Variant ID
Variant Type
Allele Change
Residue Change
Inheritance Pattern
Inheritance Association
Family Type
Author, Year
 GEN865R001 
 frameshift_variant 
 c.1936_1937del 
 p.Arg646AspfsTer2 
 De novo 
  
  
 GEN865R002 
 splice_site_variant 
 c.1954+2T>A 
  
 De novo 
  
  
 GEN865R003 
 stop_gained 
 c.1273C>T 
 p.Gln425Ter 
 De novo 
  
  
 GEN865R004 
 frameshift_variant 
 c.809_810del 
 p.Val270GlyfsTer54 
 De novo 
  
  
 GEN865R005 
 stop_gained 
 c.1733G>A 
 p.Trp578Ter 
 De novo 
  
  
 GEN865R006 
 copy_number_loss 
  
  
 Familial 
 Maternal 
 Simplex 
 GEN865R007 
 copy_number_loss 
  
  
 Familial 
 Maternal 
 Multiplex 
 GEN865R008 
 copy_number_loss 
  
  
 Familial 
 Maternal 
 Simplex 
 GEN865R009 
 copy_number_loss 
  
  
 Familial 
 Maternal 
 Multiplex 
 GEN865R010 
 frameshift_variant 
 c.453dup 
 p.Asp152ArgfsTer8 
 Familial 
 Maternal 
 Multiplex 
 GEN865R011 
 stop_gained 
 c.2185C>T 
 p.Arg729Ter 
 De novo 
  
 Simplex 
 GEN865R012 
 stop_gained 
 c.2304G>A 
 p.Trp768Ter 
 De novo 
  
 Simplex 
 GEN865R013 
 missense_variant 
 c.2693G>A 
 p.Ser898Asn 
 Familial 
 Maternal 
 Simplex 
 GEN865R014 
 frameshift_variant 
 c.259del 
 p.Thr87ProfsTer6 
 Unknown 
  
  
 GEN865R015 
 missense_variant 
 c.175C>T 
 p.Arg59Cys 
 Unknown 
  
  
 GEN865R016 
 missense_variant 
 c.2782C>T 
 p.Arg928Cys 
 Unknown 
  
  
 GEN865R017 
 stop_gained 
 c.2349T>G 
 p.Tyr783Ter 
 De novo 
  
 Simplex 
 GEN865R018 
 missense_variant 
 c.1537C>T 
 p.Pro513Ser 
 Familial 
 Maternal 
 Simplex 
 GEN865R019 
 frameshift_variant 
 c.1988_1989del 
 p.Arg663AsnfsTer2 
 De novo 
  
  
 GEN865R020 
 frameshift_variant 
 c.1653_1656del 
 p.Asn551LysfsTer4 
 De novo 
  
  
 GEN865R021 
 stop_gained 
 c.2545C>T 
 p.Arg849Ter 
 Familial 
 Maternal 
  
 GEN865R022 
 splice_site_variant 
 c.2055+1G>A 
  
 De novo 
  
  
 GEN865R023 
 copy_number_loss 
  
  
 Familial 
 Maternal 
  
 GEN865R024 
 stop_gained 
 c.1198C>T 
 p.Arg400Ter 
 De novo 
  
  
 GEN865R025 
 splice_site_variant 
 c.1954+2T>A 
  
 De novo 
  
  
 GEN865R026 
 splice_site_variant 
 c.520-1G>A 
  
 De novo 
  
  
 GEN865R027 
 frameshift_variant 
 c.2005del 
 p.Ala669GlnfsTer48 
 De novo 
  
  
 GEN865R028 
 splice_site_variant 
 c.1905-2A>G 
  
 De novo 
  
  
 GEN865R029 
 frameshift_variant 
 c.2026_2027del 
 p.Arg676AspfsTer2 
 De novo 
  
  
 GEN865R030 
 stop_gained 
 c.1282C>T 
 p.Arg428Ter 
 Unknown 
  
  
 GEN865R031 
 stop_gained 
 c.1564C>T 
 p.Gln522Ter 
 Unknown 
  
  
 GEN865R032 
 missense_variant 
 c.931A>T 
 p.Met311Leu 
 Familial 
 Maternal 
  
 GEN865R033 
 splice_site_variant 
 c.1567+1G>A 
  
 Familial 
 Maternal 
 Multiplex 
 GEN865R034 
 splice_site_variant 
 c.520-1G>C 
 p.? 
 De novo 
  
 Simplex 
 GEN865R035 
 missense_variant 
 c.2242G>C 
 p.Ala748Pro 
 Familial 
 Maternal 
 Simplex 
 GEN865R036 
 missense_variant 
 c.2479G>C 
 p.Ala827Pro 
 Familial 
 Maternal 
 Simplex 
 GEN865R037 
 stop_gained 
 c.1734G>A 
 p.Trp578Ter 
 De novo 
  
 Simplex 
 GEN865R038 
 missense_variant 
 c.2300C>T 
 p.Ser767Phe 
 Familial 
 Maternal 
 Extended multiplex 
 GEN865R039 
 frameshift_variant 
 c.2026_2027delAG 
 p.Arg676AspfsTer2 
 De novo 
  
 Simplex 
 GEN865R040 
 stop_gained 
 c.2041C>T 
 p.Gln681Ter 
 Familial 
 Maternal 
  
 GEN865R041 
 frameshift_variant 
 c.2230delG 
 p.Glu744SerfsTer6 
 Familial 
 Maternal 
 Multiplex 
 GEN865R042 
 stop_gained 
 c.2336C>G 
 p.Ser779Ter 
 De novo 
  
 Simplex 
 GEN865R043 
 frameshift_variant 
 c.1295dup 
 p.Thr433AsnfsTer15 
 Familial 
 Maternal 
 Simplex 
 GEN865R044 
 stop_gained 
 c.298C>T 
 p.Gln100Ter 
 Familial 
 Maternal 
 Multiplex 
 GEN865R045 
 missense_variant 
 c.128A>G 
 p.Gln43Arg 
 Familial 
 Maternal 
  
 GEN865R046 
 splice_site_variant 
 c.228+1G>A 
 p.? 
 Familial 
 Maternal 
 Simplex 
 GEN865R047 
 missense_variant 
 c.1090A>G 
 p.Arg364Gly 
 Familial 
 Maternal 
  
 GEN865R048 
 stop_gained 
 c.1235T>A 
 p.Leu412Ter 
 De novo 
  
 Multiplex 
 GEN865R049 
 splice_site_variant 
 c.681+1G>A 
 p.? 
 Unknown 
  
 Simplex 

Common

No Common Variants Available
Chromosome
CNV Locus
CNV Type
# of studies
Animal Model
X
Deletion-Duplication
 16
 
X
Deletion
 3
 
X
Deletion
 4
 
X
Deletion-Duplication
 1
 
X
Deletion
 1
 
X
Duplication
 1
 
X
Duplication
 2
 
X
Deletion
 4
 
X
Deletion
 1
 
X
Deletion
 1
 
X
Deletion-Duplication
 22
 

No Animal Model Data Available

 

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