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Relevance to Autism

Phenotypic characterization of 17 individuals from 16 families with either deletions or point mutations affecting the STAG1 gene demonstrated that STAG1 mutations were responsible for a form of syndromic intellectual disability (Lehalle et al., 2017). In addition to frequently observed phenotypes such as epilepsy and dysmorphic facial features, seven of the 17 individuals described in this report presented with autistic features, with one individual formally diagnosed with autistic disorder.

Molecular Function

This gene is a member of the SCC3 family and encodes a component of cohesin, a multisubunit protein complex that provides sister chromatid cohesion along the length of a chromosome from DNA replication through prophase and prometaphase, after which it is dissociated in preparation for segregation during anaphase.

External Links

        

References

Type
Title
Type of Disorder
Associated Disorders
Author, Year
Primary
STAG1 mutations cause a novel cohesinopathy characterised by unspecific syndromic intellectual disability.
ID
Autistic features, epilepsy/seizures
Support
Increased diagnostic and new genes identification outcome using research reanalysis of singleton exome sequencing.
ID
Support
Integrative Analyses of De Novo Mutations Provide Deeper Biological Insights into Autism Spectrum Disorder.
ASD

Rare

Variant ID
Variant Type
Allele Change
Residue Change
Inheritance Pattern
Inheritance Association
Family Type
Author, Year
 GEN863R001 
 copy_number_loss 
  
  
 De novo 
 NA 
 Simplex 
 GEN863R002 
 copy_number_loss 
  
  
 De novo 
 NA 
 Simplex 
 GEN863R003 
 copy_number_loss 
  
  
 De novo 
 NA 
 Simplex 
 GEN863R004 
 copy_number_loss 
  
  
 Unknown 
 Not maternal 
  
 GEN863R005 
 copy_number_loss 
  
  
 Familial 
  
 Multi-generational 
 GEN863R006 
 copy_number_loss 
  
  
 Unknown 
  
 Simplex 
 GEN863R007 
 missense_variant 
 c.641A>G 
 p.Gln214Arg 
 De novo 
 NA 
 Simplex 
 GEN863R008 
 missense_variant 
 c.1155A>C 
 p.Lys385Asn 
 De novo 
 NA 
 Simplex 
 GEN863R009 
 missense_variant 
 c.646A>G 
 p.Arg216Gly 
 De novo 
 NA 
 Simplex 
 GEN863R010 
 missense_variant 
 c.1118G>A 
 p.Arg373Gln 
 De novo 
 NA 
  
 GEN863R011 
 frameshift_variant 
 c.1182_1183insTCGAT 
 p.Arg395SerfsTer7 
 De novo 
 NA 
 Multiplex 
 GEN863R012 
 missense_variant 
 c.659A>G 
 p.His220Arg 
 De novo 
 NA 
 Simplex 
 GEN863R013 
 missense_variant 
 c.997A>C 
 p.Lys333Gln 
 De novo 
 NA 
 Simplex 
 GEN863R014 
 missense_variant 
 c.2936A>G 
 p.Lys979Arg 
 De novo 
 NA 
 Simplex 
 GEN863R015 
 missense_variant 
 c.1052T>G 
 p.Leu351Trp 
 De novo 
 NA 
 Simplex 
 GEN863R016 
 frameshift_variant 
 c.1458dup 
 p.Ser487GlnfsTer33 
 De novo 
 NA 
 Simplex 
 GEN863R017 
 missense_variant 
 c.2090G>T 
 p.Arg697Leu 
 De novo 
 NA 
 Simplex 
 GEN863R018 
 missense_variant 
 c.1433A>C 
 p.His478Pro 
 De novo 
 NA 
  

Common

No Common Variants Available
Chromosome
CNV Locus
CNV Type
# of studies
Animal Model
3
Deletion
 1
 
3
Deletion
 1
 
3
Duplication
 4
 
3
Deletion
 1
 
3
Deletion-Duplication
 16
 

No Animal Model Data Available

 

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