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Relevance to Autism

Removal of one or both copies of the Il17ra gene in mothers was shown in Choi et al. 2016 to be sufficient to rescue social deficits in offspring induced by maternal immune activation (MIA) in mice. Yim et al., 2017 demonstrated that nervous-system-specific abrogation of IL-17Ra in offspring also rescued MIA-induced behavioral abnormalities. A de novo loss-of-function variant in this gene was identified in an ASD proband from the Simons Simplex Collection in Iossifov et al., 2014.

Molecular Function

Interleukin 17A (IL17A) is a proinflammatory cytokine secreted by activated T-lymphocytes. It is a potent inducer of the maturation of CD34-positive hematopoietic precursors into neutrophils. The transmembrane protein encoded by this gene (interleukin 17A receptor; IL17RA) is a ubiquitous type I membrane glycoprotein that binds with low affinity to interleukin 17A. Interleukin 17A and its receptor play a pathogenic role in many inflammatory and autoimmune diseases.

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References

Type
Title
Type of Disorder
Associated Disorders
Author, Year
Primary
The maternal interleukin-17a pathway in mice promotes autism-like phenotypes in offspring.
Support
The contribution of de novo coding mutations to autism spectrum disorder.
ASD
Recent Recommendation
Reversing behavioural abnormalities in mice exposed to maternal inflammation.

Rare

Variant ID
Variant Type
Allele Change
Residue Change
Inheritance Pattern
Inheritance Association
Family Type
Author, Year
 GEN974R001 
 frameshift_variant 
 2220+C 
 740-! 
 De novo 
  
 Simplex 

Common

No Common Variants Available
Chromosome
CNV Locus
CNV Type
# of studies
Animal Model
22
Deletion-Duplication
 15
 
22
Duplication
 5
 
22
Duplication
 1
 
22
Duplication
 1
 

No Animal Model Data Available

 

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