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Relevance to Autism

A maternally-inherited nonsense variant in the VSIG4 gene was identified in a pair of affected monozygotic twins from a multiplex ASD family; this variant was not observed in an unaffected male sibling (Lim et al., 2013). A de novo splice-site variant in this gene has also been observed in an ASD proband from the Simons Simplex Collection (Iossifov et al., 2014).

Molecular Function

This gene encodes a v-set and immunoglobulin-domain containing protein that is structurally related to the B7 family of immune regulatory proteins. The encoded protein may be a negative regulator of T-cell responses.

External Links

        

References

Type
Title
Type of Disorder
Associated Disorders
Author, Year
Primary
Rare complete knockouts in humans: population distribution and significant role in autism spectrum disorders.
ASD
Support
The contribution of de novo coding mutations to autism spectrum disorder
ASD

Rare

Variant ID
Variant Type
Allele Change
Residue Change
Inheritance Pattern
Inheritance Association
Family Type
Author, Year
 GEN751R001 
 stop_gained 
 c.973A>T 
 p.Arg325Ter 
 Familial 
 Maternal 
 Multiplex (monozygotic twins) 
 GEN751R002 
 splice_site_variant 
 c.413-1G>A 
  
 De novo 
 NA 
 Simplex 

Common

No Common Variants Available
Chromosome
CNV Locus
CNV Type
# of studies
Animal Model
X
Deletion
 1
 
X
Duplication
 1
 
X
Deletion
 1
 
X
Deletion-Duplication
 18
 
X
Duplication
 2
 
X
Deletion
 2
 
X
Duplication
 1
 
X
Duplication
 2
 

No Animal Model Data Available

 

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