Chromosome No: 15
Chromosome Band: 15q24.1
Genetic Category: Rare single gene variant-Syndromic
Associated Syndrome(s): Bardet-Biedl syndrome 4
ASD Reports: 5
Recent Reports: 0
Annotated variants: 7
Associated CNVs: 9
Evidence score: 2
Relevance to Autism
Inherited exon-disruptive deletions in the BBS4 gene was identified in two unrelated ASD cases (Girirajan et al., 2013).
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.