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Relevance to Autism

Mattioli et al., 2020 reported six individuals with frameshift variants in the NOVA2 gene affected with a severe neurodevelopmental disorder characterized by intellectual disability, motor and speech delay, autistic features, hypotonia, feeding difficulties, spasticity or ataxic gait, and abnormal brain MRI.

Molecular Function

May regulate RNA splicing or metabolism in a specific subset of developing neurons

External Links

        

References

Type
Title
Type of Disorder
Associated Disorders
Author, Year
Primary
De Novo Frameshift Variants in the Neuronal Splicing Factor NOVA2 Result in a Common C-Terminal Extension and Cause a Severe Form of Neurodevelopmental Disorder
DD, ID
ASD or autistic features, stereotypy

Rare

Variant ID
Variant Type
Allele Change
Residue Change
Inheritance Pattern
Inheritance Association
Family Type
Author, Year
 GEN1172R001 
 frameshift_variant 
 c.782del 
 p.Val261GlyfsTer135 
 De novo 
 NA 
 Simplex 
 GEN1172R002 
 frameshift_variant 
 c.710_711insTG 
 p.Leu238GlyfsTer159 
 De novo 
 NA 
 Simplex 
 GEN1172R003 
 frameshift_variant 
 c.702_703insCCCGCGGATGTGCTGCCAGC 
 p.Ala235ProfsTer168 
 De novo 
 NA 
 Simplex 
 GEN1172R004 
 frameshift_variant 
 c.709_748del 
 p.Val237ProfsTer146 
 De novo 
 NA 
 Unknown 
 GEN1172R005 
 frameshift_variant 
 c.781del 
 p.Val261TrpfsTer135 
 Unknown 
 Not maternal 
 Simplex 
 GEN1172R006 
 frameshift_variant 
 c.720_721insCCGCGGATGTGCTTCCAGCC 
 p.Ala241ProfsTer162 
 De novo 
 NA 
 Simplex 

Common

No Common Variants Available
Chromosome
CNV Locus
CNV Type
# of studies
Animal Model
19
Deletion-Duplication
 13
 

No Animal Model Data Available

No PIN Data Available
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