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Relevance to Autism

Inherited exon-disruptive deletions in the BBS4 gene was identified in two unrelated ASD cases (Girirajan et al., 2013).

Molecular Function

This gene is a member of the Bardet-Biedl syndrome (BBS) gene family. Bardet-Biedl syndrome is an autosomal recessive disorder characterized by severe pigmentary retinopathy, obesity, polydactyly, renal malformation and cognitive disability. The proteins encoded by BBS gene family members are structurally diverse. The similar phenotypes exhibited by mutations in BBS gene family members are likely due to the protein's shared roles in cilia formation and function. Many BBS proteins localize to the basal bodies, ciliary axonemes, and pericentriolar regions of cells. BBS proteins may also be involved in intracellular trafficking via microtubule-related transport. The protein encoded by this gene has sequence similarity to O-linked N-acetylglucosamine (O-GlcNAc) transferases in plants and archaebacteria and in human forms a multi-protein "BBSome" complex with seven other BBS proteins.

External Links

        

References

Type
Title
Type of Disorder
Associated Disorders
Author, Year
Primary
Refinement and discovery of new hotspots of copy-number variation associated with autism spectrum disorder.
ASD
Positive Association
De Novo Coding Variants Are Strongly Associated with Tourette Disorder.
Tourette syndrome
Support
Clinical exome sequencing: results from 2819 samples reflecting 1000 families.
Bardet-Biedl syndrome 4
ID, epilepsy/seizures, microcephaly
Support
Phenotype-to-genotype approach reveals head-circumference-associated genes in an autism spectrum disorder cohort.
ASD
Macrocephaly
Support
Inherited and De Novo Genetic Risk for Autism Impacts Shared Networks.
ASD

Rare

Variant ID
Variant Type
Allele Change
Residue Change
Inheritance Pattern
Inheritance Association
Family Type
Author, Year
 GEN515R001 
 copy_number_loss 
  
  
 Familial 
 Maternal 
 Simplex 
 GEN515R002 
 copy_number_loss 
  
  
 Familial 
 Paternal 
 Multiplex 
 GEN515R003a 
 splice_site_variant 
 c.157-2A>G 
  
 Familial 
 Both parents 
  
 GEN515R004 
 missense_variant 
 c.154A>G 
 p.Lys52Glu 
 De novo 
 NA 
 Simplex 
 GEN515R005 
 splice_site_variant 
 c.-190+2dup 
  
 Familial 
 Paternal 
 Multiplex 
 GEN515R006 
 stop_gained 
 c.623T>A 
 p.Leu208Ter 
 Familial 
 Paternal 
 Simplex 
 GEN515R007 
 frameshift_variant 
 c.670_671del 
 p.Gln224GlyfsTer13 
 Familial 
 Maternal 
 Simplex 

Common

No Common Variants Available
Chromosome
CNV Locus
CNV Type
# of studies
Animal Model
15
Duplication
 66
  construct
15
Duplication
 1
 
15
Deletion-Duplication
 13
 
15
Deletion
 9
 
15
Deletion
 3
 
15
Deletion
 1
 
15
Duplication
 2
 
15
Deletion-Duplication
 13
 
15
Deletion
 8
 

No Animal Model Data Available

 

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