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Relevance to Autism

One study found no functional mutations in NLGN4Y in a Finnish population cohort and concluded that neuroligin mutations most probably represent rare causes of autism and that it is unlikely that the allelic variants in these genes would be major risk factors for autism (Ylisaukko-oja et al., 2005). Analysis of the coding sequences and splice junctions of the NLGN4Y gene in 335 male samples (290 with autism and 45 with intellectual disability) in Yan et al., 2008 identified a missense variant (p.Ile679Val) in a patient with autism, as well as his father with learning disabilities; this variant was not observed in 2986 control Y chromosomes. Ross et al., 2015 found that boys with 47,XYY syndrome (XYY) had increased risk of ASD behaviors on the social responsiveness scale (SRS) and increased attention deficits on the Conners' DSM-IV inattention and hyperactive scales; furthermore, peripheral expression of NLGN4Y in boys with XYY vs. typically developing controls was increased twofold in the XYY group, and results from the SRS total and autistic mannerisms scales, but not from the attention, anxiety or depression measures, correlated with peripheral expression of NLGN4Y in boys with XYY. Consistent with the hypothesis that increased NLGN4Y expression in XYY boys may contribute to ASD behaviors was the observation in Ross et al., 2019 that a male patient with the karyotype 46,X,idic(Y)(q11.22), which includes duplication of the Y short arm and proximal long arm and deletion of the distal long arm, had tall stature and cognitive function within the typical range, without autism features, as well as a two-fold increase in expression of Yp genes versus XY controls, and absent expression of deleted Yq genes, including NLGN4Y.

Molecular Function

Neuroligins are cell-adhesion molecules at the postsynaptic side of the synapse .

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References

Type
Title
Type of Disorder
Associated Disorders
Author, Year
Primary
Analysis of four neuroligin genes as candidates for autism.
ASD
Support
Y chromosome gene copy number and lack of autism phenotype in a male with an isodicentric Y chromosome and absent NLGN4Y expression.
Support
Analysis of the neuroligin 4Y gene in patients with autism.
ASD
Highly Cited
The male-specific region of the human Y chromosome is a mosaic of discrete sequence classes.
Recent Recommendation
Behavioral phenotypes in males with XYY and possible role of increased NLGN4Y expression in autism features.
ASD or autistic behaviors

Rare

Variant ID
Variant Type
Allele Change
Residue Change
Inheritance Pattern
Inheritance Association
Family Type
Author, Year
 GEN173R001 
 missense_variant 
 c.2035A>G 
 p.Ile679Val 
 Familial 
 Paternal 
 Simplex 

Common

No Common Variants Available
Chromosome
CNV Locus
CNV Type
# of studies
Animal Model
Y
Duplication
 1
 
Y
Duplication
 1
 
Y
Duplication
 1
 
Y
Duplication
 2
 
Y
Deletion-Duplication
 1
 
Y
Duplication
 1
 
Y
Duplication
 1
 
Y
Duplication
 7
 
Y
Duplication
 1
 
Y
Duplication
 1
 
Y
Duplication
 1
 
Y
Deletion
 1
 
Y
Duplication
 2
 
Y
Deletion
 2
 

No Animal Model Data Available

 

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