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Relevance to Autism

Mice lacking the chemokine receptor Cx3cr1 exhibit a transient reduction of microglia during the early postnatal period and a consequent deficit in synaptic pruning, which in turn is associated with weak synaptic transmission, decreased functional brain connectivity, deficits in social interaction and increased repetitive-behavior phenotypes that have been previously associated with autism and other neurodevelopmental and neuropsychiatric disorders (Zhan et al., 2014). Targeted resequencing of the CX3CR1 gene in 370 Japanese schizophrenia and 192 ASD patients identified several rare missense variants, including a missense variant (p.Ala55Thr) in one ASD proband and one schizophrenia proband that inhibited fractakline-induced phosporylation of Akt in transfected cells (Ishizuka et al., 2017). Furthermore, an independent genetic association study in a sample consisting of 2653 Japanese schizophrenia cases, 574 Japanese ASD cases, and 3827 ethnically-matched controls demonstrated that the CX3CR1 p.Ala55Thr missense variant associated with both ASD (Odds ratio 13.3 [1.04-Inf], P=0.0047) and schizophrenia (Odds ratio 7.2 [1.04-Inf], P=0.045).

Molecular Function

Receptor for the CX3C chemokine fractalkine and mediates both its adhesive and migratory functions. Expressed in lymphoid and neural tissues.

External Links

        

References

Type
Title
Type of Disorder
Associated Disorders
Author, Year
Primary
Deficient neuron-microglia signaling results in impaired functional brain connectivity and social behavior.
Support
Altered gene expression and function of peripheral blood natural killer cells in children with autism.
ASD
Recent Recommendation
Rare genetic variants in CX3CR1 and their contribution to the increased risk of schizophrenia and autism spectrum disorders.
ASD, SCZ

Rare

Variant ID
Variant Type
Allele Change
Residue Change
Inheritance Pattern
Inheritance Association
Family Type
Author, Year
 GEN599R001 
 missense_variant 
 c.163G>A 
 p.Ala55Thr 
 Familial 
 Paternal 
 Simplex 
 GEN599R002 
 missense_variant 
 c.335G>C 
 p.Gly112Ala 
 Familial 
 Maternal 
 Simplex 
 GEN599R003 
 missense_variant 
 c.335G>C 
 p.Gly112Ala 
 Familial 
 Maternal 
 Simplex 
 GEN599R004 
 missense_variant 
 c.163G>A 
 p.Ala55Thr 
 Unknown 
  
 Unknown 
 GEN599R005 
 missense_variant 
 c.335G>C 
 p.Gly112Ala 
 Unknown 
  
 Unknown 
 GEN599R006 
 missense_variant 
 c.414G>T 
 p.Met138Ile 
 Unknown 
  
 Unknown 

Common

Variant ID
Polymorphism
SNP ID
Allele Change
Residue Change
Population Origin
Population Stage
Author, Year
 GEN599C001 
 missense_variant 
 rs750585901 
 c.163G>A 
 p.Ala55Thr 
 382 Japanese ASD cases (19.6 8.4 years, 77.6% male) and 3827 Japanese control subjects (43.3 14.5 years, 41.6% male) 
 Discovery 
 GEN599C002 
 missense_variant 
 rs750585901 
 c.163G>A 
 p.Ala55Thr 
 2283 Japanese SCZ cases (48.1 23.8 years, 41.7% male) and 3827 Japanese control subjects (43.3 14.5 years, 41.6% male) 
 Discovery 
Chromosome
CNV Locus
CNV Type
# of studies
Animal Model
3
Duplication
 1
 

No Animal Model Data Available

No PIN Data Available
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