AutismKB

Evidence Detail for CNTNAP2


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Basic Information Top
Gene Symbol:CNTNAP2 ( AUTS15,CASPR2,CDFE,DKFZp781D1846,NRXN4,PTHSL1 )
Gene Full Name: contactin associated protein-like 2
Band: 7q35
Quick LinksEntrez ID:26047; OMIM: 604569; Uniprot ID:CNTP2_HUMAN; ENSEMBL ID: ENSG00000174469
Sequences Top
>CNTNAP2|26047|nucleotide
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>CNTNAP2|26047|protein
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Evidence Statistic Top

Click the link of the category-specific score to view different category of evidences. The categories without any evidences are hidden by default.
Evidences Syndromic Gene GWAS Expression CNV Linkage Low Scale Association Other Studies Total
Score (No. of Studies) Yes 2 (3) 0 (0) 1 (3) 1 (3) 2 (2) 3 (3) 42 (11)
Syndromic Autism Gene Top
Abbreviations: AD, autosomal dominant; AR, autosomal recessive; ASD, autism spectrum disorder; ID, intellectual disability; XL, X linked.
InheritanceAR (AD too?)
OMIMCortical dysplasia-focal epilepsy syndrome (610042)
DescriptionCortical dysplasia-focal epilepsy syndrome and Pitt-Hopkins-like syndrome-1 are autosomal recessive disorders. Deletions or chromosomal rearrangements disrupting a single copy of CNTNAP2 have been reported in patients with ASD, ID, epilepsy, schizophrenia and bipolar disorder as well as in healthy subjects; however, the clinical significance of the disruption of only one allele is unknown
Reference(s)16571880; 20513142;
LevelLevel 4: The disorder is a generally acknowledged ASD related disorder.
Low Scale Association Studies (by Ethnic Group) Top
Family Based Association Studies: 2
Case Control Based Association Studies: 0
Reference Population #SNPs/ #VNTRs ASD Cases Normal Controls Result
#Subjects
(% Women)
ADI-R ADOS Diagnosis Age
(range)
IQ #Subjects
(% Women)
Age
(range)
No Evidence.
Genome-Wide Association Studies(By Ethnic Group) Top
Family Based Association Studies: 3
Reference Stage #SNPs/ #VNTRs #Families Affecteds Result
#Subjects
(% Women)
ADI-R ADOS Diagnosis Age
(range)
IQ
(range)
CAUCASIAN
Arking, 2008_2 Replication 1 (detail) 1295 1295
(-)
ASD -
-
-
-
Arking, 2008_1 Discovery 1 (detail) 72 148
(-)
ASD -
-
-
-
Hussman, 2011_1 Discovery 1 (detail) 597 -
(-)
ASD -
-
-
-
Case Control Based Association Studies: 0
Reference Stage #SNPs/ #VNTRs ASD Cases Normal Controls Result
#Subjects
(% Women)
ADI-R ADOS Diagnosis Age
(range)
IQ #Subjects
(% Women)
Age
(range)
No Evidence.
Other Low Scale Gene Studies Top
Reference Orangnism Tissue ADI-R ADOS Diagnosis Evidence Level Result
Bakkaloglu, 2008_1 human bloodASD genetics
  • Subjects: 1
  • Normal Controls: -
  • Methods: FISH
  • Evidence Details: We evaluated a patient with MR and a de novo inversion of chromosome 7 (46,XY,inv(7)(q11.22;q35)). Based on the Autism Diagnostic Interview-Revised (ADI-R), the index case met "broad spectrum" criteria according to the Autism Genetics Research Exchange (AGRE) phenotype algorithm (Appendix A) but did not meet the full criteria for ASD according to the combination of ADI-R and Autism Diagnostic Observations Scales (ADOS).
Bakkaloglu, 2008_2 human bloodASD genetics: mutation screen
  • Subjects: 635
  • Normal Controls: 942
  • Methods: PCR, sequence
  • Evidence Details: Among patients, we identified a total of 27 nonsynonymous changes; 13 were rare and unique to patients and 8 of these were predicted to be deleterious by bioinformatic approaches and/or altered residues conserved across all species. One variant at a highly conserved position, I869T, was inherited by four affected children in three unrelated families, but was not found in 4010 control chromosomes (p = 0.014).
Poot, 2009_1 human bloodASD case report
  • Subjects: a boy with mild facial dysmorphisms, speech delay and ASD
  • Normal Controls: -
  • Methods: karyotyping, FISH and SNP array
  • Evidence Details: FISH with region-specific BACs mapped both inversion breakpoints and revealed additional breaks and structural changes in the CNTNAP2 gene
Nord, 2011_1 human lymphoblasts--ASD RNA expression
  • Subjects: 41 (35 females, 6 males)
  • Normal Controls: 367
  • Methods: qRT-PCR
  • Evidence Details: decreased in probands compared with their unaffected transmitting parents.
Carayol, 2011_1 human bloodASD genetic score model
  • Subjects: 844(664 males and 179 females)
  • Normal Controls: -
  • Methods: TaqMan allele discrimination assays
  • Evidence Details: Our results demonstrate that individual susceptibility associated SNPs for autism may have important differential sex effects.
Large Scale Expression Studies Top
CNV Studies Top
CNV Name Chr Band Gain/Loss Number of CNVs Evidence Type Reference
Case Control
AutCNV0000788 7 7q35 gain 1 - paternal Pinto, 2010
AutCNV0000789 7 7q35 gain 1 - paternal Pinto, 2010
AutCNV0000790 7 7q35 gain 1 - maternal Pinto, 2010
AutCNV0001080 7 7q35 gain 1 - paternal Pinto, 2010
AutCNV0001081 7 7q35 gain 1 - paternal Pinto, 2010
AutCNV0001875 7 7q35 gain 1 - paternal Pinto, 2010
AutCNV0002676 7 7q35 gain 1 - maternal Pinto, 2010
AutCNV0002677 7 7q35 loss 1 - maternal Pinto, 2010
AutCNV0003261 7 7q35 loss 2 - Overlapping/Recurrent CNVs; Gai, 2011
AutCNV0003262 7 7q35 loss 2 - Overlapping/Recurrent CNVs; Gai, 2011
AutCNV0004437 7 7q35 gain - - CNVs Only Present In Patients; Nord, 2011
Linkage Studies Top
Linkage Name Band Chr Marker LOD NPL P_Value Reference
AutLD0000003 7q35 7 D7S2195 1.65 - - McCauley, 2005
AutLD0000059 7q36.1 7 D7S483 2.13 - - Liu, 2001
AutLD0000093 7q36.1 7 D7S483 2 - - Molloy, 2005

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Syndromic Genes

Non-syndromic Genes

AutismKB Statistics

  • Studies: 616
  • Genes: 3,075
  • SNPs/VNTRs: 3,386
  • CNVs: 4,617
  • Linkage Regions: 158
  • Last Update: 05/25/2012
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