WASF1
Homo sapiens
Gene Name: WAS protein family member 1
Aliases: SCAR1, WAVE, WAVE1
Chromosome No: 6
Chromosome Band: 6q21
Genetic Category: Syndromic-Rare single gene variant
Aliases: SCAR1, WAVE, WAVE1
Chromosome No: 6
Chromosome Band: 6q21
Genetic Category: Syndromic-Rare single gene variant
Summary Statistics:
ASD Reports: 4
Recent Reports: 1
Annotated variants: 12
Associated CNVs: 3
Evidence score: 2
ASD Reports: 4
Recent Reports: 1
Annotated variants: 12
Associated CNVs: 3
Evidence score: 2
| Associated Disorders: |
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Relevance to Autism
Ito et al., 2018 identified five unrelated individuals with de novo truncating variants in the WASF1 gene, all of whom presented with intellectual disability, autistic features, and seizures.
Molecular Function
The protein encoded by this gene, a member of the Wiskott-Aldrich syndrome protein (WASP)-family, plays a critical role downstream of Rac, a Rho-family small GTPase, in regulating the actin cytoskeleton required for membrane ruffling. It has been shown to associate with an actin nucleation core Arp2/3 complex while enhancing actin polymerization in vitro. Wiskott-Aldrich syndrome is a disease of the immune system, likely due to defects in regulation of actin cytoskeleton.
External Links
References
Type
Title
Type of Disorder
Associated Disorders
Author, Year
Primary
De Novo Truncating Mutations in WASF1 Cause Intellectual Disability with Seizures.
ID, epilepsy/seizures, autistic features
Support
Recurrent de novo pathogenic variant of WASF1 in a Japanese patient with neurodevelopmental disorder with absent language and variable seizures
DD, ID, epilepsy/seizures
Recent Recommendation
Expansion of the Genotypic and Phenotypic Spectrum of WASF1-Related Neurodevelopmental Disorder
ASD, ID, epilepsy/seizures
DD