Autism Reports / Total Reports2 / 2
Rare Variants / Common Variants3 / 0
AliasesCDH13, CDHH, P105
Genetic CategoryRare Single Gene Mutation
Relevance to Autism
A de novo missense variant that was predicted to be damaging was observed in the CDH13 gene in an ASD proband from the Simons Simplex Collection (Iossifov et al., 2014). CNV analysis of 1,108 ASD cases, 2,458 schizophrenia (SCZ) cases, and 2,095 controls from a Japanese population in Kushima et al., 2018 demonstrated that significant enrichment of exonic CNVs affecting the CDH13 gene was observed in a combined cohort of ASD and SCZ cases compared to controls [4 CNVs from ASD cases and 4 CNVs from SCZ cases (8 total) vs. 0 CNVs in controls (Odds ratio 10.02, P = 8.6E-03)].
This gene encodes a member of the cadherin superfamily. The encoded protein is localized to the surface of the cell membrane and is anchored by a GPI moiety, rather than by a transmembrane domain. The protein lacks the cytoplasmic domain characteristic of other cadherins, and so is not thought to be a cell-cell adhesion glycoprotein. This protein acts as a negative regulator of axon growth during neural differentiation.
Reports related to CDH13 (2 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||Recent Recommendation||Comparative Analyses of Copy-Number Variation in Autism Spectrum Disorder and Schizophrenia Reveal Etiological Overlap and Biological Insights.||Kushima I , et al. (2018)||Yes||-|
Rare Variants (3)
|Status||Allele Change||Residue Change||Variant Type||Inheritance Pattern||Parental Transmission||Family Type||PubMed ID||Author, Year|
|-||-||copy_number_loss||Unknown||-||-||30208311||Kushima I , et al. (2018)|
|p.786G>A||p.(=)||synonymous_variant||De novo||-||Simplex||25363768||Iossifov I , et al. (2014)|
|c.1307A>G||p.Asp436Gly||missense_variant||De novo||-||Simplex||25363768||Iossifov I , et al. (2014)|
No common variants reported.
CNVs associated with CDH13(1 CNVs)
|16q23.3||20||Deletion-Duplication||33 / 70|