Summary Statistics:
Gene Score: 4
Relevance to Autism
A de novo partial deletion of CDH11, which was associated with one of the breakpoints of a de novo complex chromosomal rearrangement, was identified in a sporadic patient with ASD, mild intellectual disability, and ADHD; in the same report, a case-control study for 14 SNP variants in the CDH11 gene in 519 ASD cases and 1,192 controls showed significant overpresentation of rs7187376C/C genotypes in the patient group (P=0.0049) (Crepel et al., 2014).
Molecular Function
Cadherins are calcium-dependent cell adhesion proteins. They preferentially interact with themselves in a homophilic manner in connecting cells; cadherins may thus contribute to the sorting of heterogeneous cell types. Expressed mainly in brain but also found in other tissues. Expressed in neuroblasts.
References
Primary
Association of CDH11 with non-syndromic ASD.
ASD
ID, ADHD
Support
Association of CDH11 with Autism Spectrum Disorder Revealed by Matched-gene Co-expression Analysis and Mouse Behavioral Studies
ASD
Support
Regulation of Neural Circuit Development by Cadherin-11 Provides Implications for Autism
ASD
Support
Pathogenic variants in CDH11 impair cell adhesion and cause Teebi hypertelorism syndrome
Teebi hypertelorism syndrome 2, DD
ASD, ADHD, ID
Support
Segregated expressions of autism risk genes Cdh11 and Cdh9 in autism-relevant regions of developing cerebellum.
Support
Mutations in Human Accelerated Regions Disrupt Cognition and Social Behavior.
ASD
Support
Clinical genomics expands the morbid genome of intellectual disability and offers a high diagnostic yield.
ID
Support
Integrating de novo and inherited variants in 42
ASD
GEN615R001
copy_number_loss
De novo
Simplex
GEN615R002
missense_variant
c.1562C>T
p.Thr521Met
Familial
Paternal
Multiplex
GEN615R003
missense_variant
c.806C>T
p.Pro269Leu
Unknown
Unknown
GEN615R004
missense_variant
c.2132C>A
p.Ala711Glu
Unknown
Unknown
GEN615R005a
splice_site_variant
c.999+1G>T
Familial
Both parents
Simplex
GEN615R006
intergenic_variant
TA>CT
Unknown
GEN615R007
intergenic_variant
G>A
Unknown
GEN615R008
missense_variant
c.979G>T
p.Gly327Trp
Familial
Paternal
Multiplex
GEN615R009
missense_variant
c.164G>C
p.Trp55Ser
De novo
Simplex
GEN615R010
missense_variant
c.418G>A
p.Glu140Lys
Unknown
GEN615R011
missense_variant
c.780T>A
p.Asp260Glu
De novo
Simplex
GEN615R012
missense_variant
c.785A>T
p.Asn262Ile
De novo
Simplex
GEN615R013
missense_variant
c.778G>A
p.Asp260Asn
Familial
Extended multiplex
GEN615R014
missense_variant
c.835G>C
p.Glu279Gln
De novo
Simplex
GEN615R015
missense_variant
c.1121T>A
p.Val374Glu
Familial
Multi-generational
GEN615R016
missense_variant
c.797C>T
p.Pro266Leu
De novo
Simplex
GEN615R017
inframe_deletion
c.1369_1374del
p.Thr457_Val458del
De novo
GEN615R018
missense_variant
c.1303C>T
p.Pro435Ser
De novo
GEN615C001
intron_variant
rs7187376
c.-298+19288A>G;c.-298+21082A>G;c.-298+23178A>G;c.-298+21642A>G;c.-276+19288A>G
519 ASD cases, 1192 controls (all male)
Discovery
16
Deletion-Duplication
18
Summary Statistics:
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