NOVA2
Homo sapiens
Gene Name: NOVA alternative splicing regulator 2
Aliases: ANOVA, NOVA3
Chromosome No: 19
Chromosome Band: 19q13.32
Genetic Category: Syndromic-Rare single gene variant
Aliases: ANOVA, NOVA3
Chromosome No: 19
Chromosome Band: 19q13.32
Genetic Category: Syndromic-Rare single gene variant
Summary Statistics:
ASD Reports: 3
Recent Reports: 1
Annotated variants: 16
Associated CNVs: 1
Evidence score: 3
ASD Reports: 3
Recent Reports: 1
Annotated variants: 16
Associated CNVs: 1
Evidence score: 3
| Associated Disorders: |
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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. Scala et al., 2022 investigated eight individuals with seven novel pathogenic NOVA2 variants; all eight individuals presented with global developmental delay and intellectual disability, and autistic features/autism spectrum disorder was observed in six individuals.
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
Recent Recommendation
De novo truncating NOVA2 variants affect alternative splicing and lead to heterogeneous neurodevelopmental phenotypes
DD, ID
ASD or autistic features, ADHD, epilepsy/seizures
Rare
Variant ID
Variant Type
Allele Change
Residue Change
Inheritance Pattern
Inheritance Association
Family Type
Author, Year
GEN1172R002
frameshift_variant
c.710_711insTG
p.Leu238GlyfsTer159
De novo
Simplex
GEN1172R003
frameshift_variant
c.702_703insCCCGCGGATGTGCTGCCAGC
p.Ala235ProfsTer168
De novo
Simplex
GEN1172R004
frameshift_variant
c.709_748del
p.Val237ProfsTer146
De novo
Unknown
GEN1172R005
frameshift_variant
c.781del
p.Val261TrpfsTer135
Unknown
Not maternal
Simplex
GEN1172R006
frameshift_variant
c.720_721insCCGCGGATGTGCTTCCAGCC
p.Ala241ProfsTer162
De novo
Simplex
GEN1172R008
frameshift_variant
c.754_756delinsTT
p.Leu252PhefsTer144
De novo
Simplex
GEN1172R009
frameshift_variant
c.1329dup
p.Lys444GlnfsTer82
Unknown
Not maternal
Unknown
Common
No Common Variants Available