CCDC88C
Homo sapiens
Gene Name: Coiled-coil domain containing 88C
Aliases: DAPLE, HKRP2, KIAA1509, SCA40
Chromosome No: 14
Chromosome Band: 14q32.11-q32.12
Genetic Category: Rare single gene variant
Aliases: DAPLE, HKRP2, KIAA1509, SCA40
Chromosome No: 14
Chromosome Band: 14q32.11-q32.12
Genetic Category: Rare single gene variant
Summary Statistics:
ASD Reports: 11
Recent Reports: 0
Annotated variants: 15
Associated CNVs: 7
Evidence score: 2
ASD Reports: 11
Recent Reports: 0
Annotated variants: 15
Associated CNVs: 7
Evidence score: 2
| Associated Disorders: |
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Relevance to Autism
Two de novo missense variants in the CCDC88C gene were identified in simplex ASD probands, with no de novo events in this gene observed in 1,786 unaffected siblings from the Simons Simplex Collection (P=0.07) (Iossifov et al., 2014; Krumm et al., 2015).
Molecular Function
This gene encodes a ubiquitously expressed coiled-coil domain-containing protein that interacts with the dishevelled protein and is a negative regulator of the canonical Wnt signaling pathway, acting downstream of DVL to inhibit CTNNB1/Beta-catenin stabilization. Mutations in this gene cause autosomal recessive, primary non-syndromic congenital hydrocephalus; a condition characterized by excessive accumulation of cerebrospinal fluid in the ventricles of the brain.
External Links
References
Type
Title
Type of Disorder
Associated Disorders
Author, Year
Support
Inherited and multiple de novo mutations in autism/developmental delay risk genes suggest a multifactorial model.
ASD
Support
Integrative Analyses of De Novo Mutations Provide Deeper Biological Insights into Autism Spectrum Disorder.
ASD
Support
Rare Variant Burden and Behavioral Phenotypes in Children with Autism in Slovakia
ASD
Support
De novo genic mutations among a Chinese autism spectrum disorder cohort.
ASD
Support
Genome Sequencing Identifies 13 Novel Candidate Risk Genes for Autism Spectrum Disorder in a Qatari Cohort
ASD
Support
The contribution of de novo coding mutations to autism spectrum disorder
ASD
Support
Mutational Landscape of Autism Spectrum Disorder Brain Tissue
ASD
