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Relevance to Autism

A 9-year-old girl from a consanguineous family who presented with ASD, intellectual disability, and ADHD was identified with a homozygous missense variant in the CLSTN2 gene that was novel and predicted to be deleterious (Monies et al., 2017). Clstn2-knockout mice [Clstn2 (-/-)] have been shown to exhibit hyperactivity and deficits in learning and memory (Lipina et al., 2016), as well as stereotyped behavior and, in male mice, deficits in social behavior (Ranneva et al., 2017). Loss of the CLSTN2 ortholog CASY-1 in C. elegans resulted in deficits in associative learning, which could be rescued by neuronal overexpression of human CLSTN2 (Hoerndli et al., 2009).

Molecular Function

May modulate calcium-mediated postsynaptic signals (UniProt)

External Links

        

References

Type
Title
Type of Disorder
Associated Disorders
Author, Year
Primary
The landscape of genetic diseases in Saudi Arabia based on the first 1000 diagnostic panels and exomes.
ASD, ID, ADHD
Support
Cognitive Deficits in Calsyntenin-2-deficient Mice Associated with Reduced GABAergic Transmission.
Support
A conserved function of C. elegans CASY-1 calsyntenin in associative learning.
Recent Recommendation
Features of emotional and social behavioral phenotypes of calsyntenin2 knockout mice.

Rare

Variant ID
Variant Type
Allele Change
Residue Change
Inheritance Pattern
Inheritance Association
Family Type
Author, Year
 GEN917R001a 
 missense_variant 
 c.c.2296C>T 
 p.Arg766Cys 
 Familial 
 Both parents 
  

Common

No Common Variants Available
Chromosome
CNV Locus
CNV Type
# of studies
Animal Model
3
Deletion
 1
 
3
Deletion
 1
 
3
Duplication
 1
 
3
Deletion-Duplication
 18
 

No Animal Model Data Available

 

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