Aliases: BMND16, INT1, OI15
Chromosome No: 12
Chromosome Band: 12q13.12
Genetic Category: Genetic association-Rare single gene variant-Syndromic-Rare single gene variant/Functional
ASD Reports: 6
Recent Reports: 3
Annotated variants: 5
Associated CNVs: 2
Evidence score: 2
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Relevance to Autism
A missense variant in the WNT1 gene (p.Ser88Arg) that results in increased activity was found to be overrepresented in a combined sample of ASD cases compared to controls [8 A/T in 267 ASD (minor allele frequency (MAF)=1.69%) vs 1 A/T in 377 controls (MAF=0.13%), OR=13.0, Fisher's exact test, P=0.0048] (Martin et al., 2013). Prenatal valproate exposure in rats, which is used as an induced animal model of ASD, increases WNT1 expression (Wang et al., 2010; Go et al., 2012).
Molecular Function
This gene is a member of the WNT gene family, which consists of structurally related genes which encode secreted signaling proteins involved in multiple developmental processes. Studies in mouse indicate that the Wnt1 protein plays a role in CNS development and functions in the induction of the mesencephalon and cerebellum.
External Links
