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Relevance to Autism

De novo variants in the NAV2 gene, including two missense variants and a synonymous variant predicted in PMID 26938441 to affect splicing regulation by altering an exonic splicing regulator, have been observed in ASD probands (Sanders et al., 2012; O'Roak et al., 2012; Iossifov et al., 2014). Evaluation of the statistical significance of observing multiple functional de novo variants in this gene, taking into account gene length and local sequence context to determine the expected number of variants, generated a p-value of 1.78E-02 (Takata et al., 2016).

Molecular Function

This gene encodes a member of the neuron navigator gene family, which may play a role in cellular growth and migration. The protein encoded by the NAV2 gene possesses 3' to 5' helicase activity and exonuclease activity and is involved in neuronal development, specifically in the development of different sensory organs.

External Links

        

References

Type
Title
Type of Disorder
Associated Disorders
Author, Year
Primary
De novo mutations revealed by whole-exome sequencing are strongly associated with autism.
ASD
Support
Rates, distribution and implications of postzygotic mosaic mutations in autism spectrum disorder.
ASD
Support
Neurogenetic analysis of childhood disintegrative disorder.
Childhood disintegrative disorder
Support
De novo genic mutations among a Chinese autism spectrum disorder cohort.
ASD
Support
The contribution of de novo coding mutations to autism spectrum disorder.
ASD
Support
Sporadic autism exomes reveal a highly interconnected protein network of de novo mutations.
ASD
Support
Sensory deficits in mice hypomorphic for a mammalian homologue of unc-53.
Support
Inherited and multiple de novo mutations in autism/developmental delay risk genes suggest a multifactorial model.
ASD
Recent Recommendation
De Novo Synonymous Mutations in Regulatory Elements Contribute to the Genetic Etiology of Autism and Schizophrenia.

Rare

Variant ID
Variant Type
Allele Change
Residue Change
Inheritance Pattern
Inheritance Association
Family Type
Author, Year
 GEN814R001 
 missense_variant 
 c.7405G>A 
 p.Asp2469Asn 
 De novo 
  
 Simplex 
 GEN814R002 
 missense_variant 
 c.892C>T 
 p.Arg298Cys 
 De novo 
  
 Simplex 
 GEN814R003 
 synonymous_variant 
 c.6210C>T 
 p.(=) 
 De novo 
  
 Simplex 
 GEN814R004 
 missense_variant 
 c.3707G>A 
 p.Arg1236His 
 Familial 
 Maternal 
  
 GEN814R005 
 missense_variant 
 c.2432G>A 
 p.Arg811Gln 
 Familial 
 Maternal 
  
 GEN814R006 
 missense_variant 
 c.2432G>A 
 p.Arg811Gln 
 Familial 
 Maternal 
  
 GEN814R007 
 missense_variant 
 c.4555C>T 
 p.Arg1519Cys 
 Familial 
 Maternal 
  
 GEN814R008 
 missense_variant 
 c.3707G>A 
 p.Arg1236His 
 Familial 
 Paternal 
  
 GEN814R009 
 missense_variant 
 c.2924G>A 
 p.Arg975Gln 
 Familial 
 Paternal 
  
 GEN814R010 
 missense_variant 
 c.6419C>T 
 p.Ser2140Leu 
 Familial 
 Paternal 
  
 GEN814R011 
 missense_variant 
 c.6878G>A 
 p.Arg2293Gln 
 Familial 
 Paternal 
  
 GEN814R012 
 splice_site_variant 
 c.4875+1G>A 
 p.? 
 Unknown 
  
  
 GEN814R013 
 missense_variant 
 C>T 
 p.Arg2046Trp 
 De novo 
  
 Simplex 
 GEN814R014 
 missense_variant 
 G>A 
 p.Arg35His 
 De novo 
  
  
 GEN814R015 
 missense_variant 
 c.2441G>A 
 p.Arg814Gln 
 Familial 
 Maternal 
 Simplex 

Common

No Common Variants Available
Chromosome
CNV Locus
CNV Type
# of studies
Animal Model
11
Deletion-Duplication
 18
 
11
Deletion
 1
 
11
Deletion
 1
 
11
Duplication
 1
 

No Animal Model Data Available

 

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