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Relevance to Autism

De novo missense variants in the SIN3B gene have been identified in ASD probands from the Simons Simplex Collection (Iossifov et al., 2014) and the Autism Sequencing Consortium (Satterstrom et al., 2020), while an inherited protein-truncating variant in this gene was observed in an ASD proband from the iHART cohort (Ruzzo et al., 2019). Latypova et al., 2021 identified nine individuals with heterozygous SIN3B deletions or single-nucleotide variants who presented with a syndrome hallmarked by intellectual disability, developmental delay, and dysmorphic facial features with variably penetrant autism spectrum disorder, congenital malformations, corpus callosum defects, and impaired growth.

Molecular Function

Acts as a transcriptional repressor. Interacts with MXI1 to repress MYC responsive genes and antagonize MYC oncogenic activities. Interacts with MAD-MAX heterodimers by binding to MAD. The heterodimer then represses transcription by tethering SIN3B to DNA. Also forms a complex with FOXK1 which represses transcription. With FOXK1, regulates cell cycle progression probably by repressing cell cycle inhibitor genes expression.

External Links

        

References

Type
Title
Type of Disorder
Associated Disorders
Author, Year
Primary
The contribution of de novo coding mutations to autism spectrum disorder
ASD
Support
Large-Scale Exome Sequencing Study Implicates Both Developmental and Functional Changes in the Neurobiology of Autism
ASD
Support
Inherited and De Novo Genetic Risk for Autism Impacts Shared Networks.
ASD
Recent Recommendation
Haploinsufficiency of the Sin3/HDAC corepressor complex member SIN3B causes a syndromic intellectual disability/autism spectrum disorder
DD, ID
ASD, ADHD

Rare

Variant ID
Variant Type
Allele Change
Residue Change
Inheritance Pattern
Inheritance Association
Family Type
Author, Year
 GEN1242R001 
 missense_variant 
 c.1295C>T 
 p.Ser432Leu 
 De novo 
 NA 
 Simplex 
 GEN1242R002 
 stop_gained 
 c.1277G>A 
 p.Trp426Ter 
 Familial 
 Maternal 
 Multiplex 
 GEN1242R003 
 missense_variant 
 c.575C>T 
 p.Thr192Met 
 De novo 
 NA 
  
 GEN1242R004 
 copy_number_loss 
  
  
 De novo 
 NA 
  
 GEN1242R005 
 copy_number_loss 
  
  
 De novo 
 NA 
  
 GEN1242R006 
 copy_number_loss 
  
  
 De novo 
 NA 
  
 GEN1242R007 
 copy_number_loss 
  
  
 De novo 
 NA 
  
 GEN1242R008 
 copy_number_loss 
  
  
 De novo 
 NA 
  
 GEN1242R009 
 frameshift_variant 
 c.31del 
 p.Ser11AlafsTer11 
 De novo 
 NA 
 Multiplex 
 GEN1242R010 
 frameshift_variant 
 c.1579del 
 p.Leu527SerfsTer13 
 Unknown 
  
 Unknown 
 GEN1242R011 
 missense_variant 
 c.249C>G 
 p.Ile83Met 
 De novo 
 NA 
 Simplex 
 GEN1242R012 
 missense_variant 
 c.58G>A 
 p.Gly20Arg 
 Unknown 
 Not maternal 
  

Common

No Common Variants Available
Chromosome
CNV Locus
CNV Type
# of studies
Animal Model
19
Deletion-Duplication
 16
 
19
Duplication
 1
 
19
Deletion
 4
 
19
Duplication
 1
 
19
Duplication
 1
 

No Animal Model Data Available

 

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