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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

        

References

Type
Title
Type of Disorder
Associated Disorders
Author, Year
Primary
A rare WNT1 missense variant overrepresented in ASD leads to increased Wnt signal pathway activation.
ASD
Support
Genome-wide rare variant score associates with morphological subtypes of autism spectrum disorder
ASD
Autosomal recessive osteogenesis imperfecta type X
Support
Integrating de novo and inherited variants in 42
ASD
Recent Recommendation
ASD
Recent Recommendation
Prenatal exposure to valproic acid increases the neural progenitor cell pool and induces macrocephaly in rat brain via a mechanism involving the GS...
Recent Recommendation
Demethylation of specific Wnt/-catenin pathway genes and its upregulation in rat brain induced by prenatal valproate exposure.
Variant ID
Variant Type
Allele Change
Residue Change
Inheritance Pattern
Inheritance Association
Family Type
Author, Year
 GEN572R001 
 missense_variant 
 c.793C>T 
 p.Arg265Cys 
 Familial 
 Unknown 
 Simplex 
 GEN572R002 
 synonymous_variant 
 c.456G>T 
 p.Thr152%3D 
 De novo 
  
  
 GEN572R003a 
 frameshift_variant 
 c.287_300del 
 p.Gln96ProfsTer54 
 Familial 
 Both parents 
  
 GEN572R004a 
 splice_site_variant 
 c.104+1G>A 
  
 Familial 
 Both parents 
 Simplex 
Chromosome
CNV Locus
CNV Type
# of studies
Animal Model
12
Duplication
 1
 
12
Deletion-Duplication
 8
 

No Animal Model Data Available

 

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