Recombinant Human Bardet-Biedl syndrome 2 protein (BBS2)

1. A pair of heterozygous nonsense mutations in BBS2 gene was identified in the proband, one being novel and the other recurrent. The novel mutation, p.Y644X, resides in exon 16 and was also found in the heterozygous state in the mother PMID: 26078953
2. we report here, for the first time, in Indian population, a novel, different profile of mutations in BBS genes (BBS3, BBS9, BBS10 and BBS2) compared to worldwide (BBS1 and 10) reports. PMID: 24400638
3. Our study shows that BBS2 mutations can cause nonsyndromic retinitis pigmentosa and highlights yet another candidate for this genetically heterogeneous condition. PMID: 25541840
4. Novel mutation (c.115+5G>A) in BBS2 found in Tunisian families with Bardet-Biedl syndrome. PMID: 23432027
5. Carrier frequency has been determined for two BBS2 mutations present in the Ashkenazi Jewish population. PMID: 23829372
6. Sequence analysis and subsequent RNA studies identified and confirmed a novel splice site mutation, c.472-2A>G, in BBS2. This mutation was also found in homozygous form in three subsequently studied Hutterite BBS patients from two different leuts. PMID: 20618352
7. A novel missense mutation found in BBS2 exon 4 and a novel intronic point mutation found in Bardet-Biedl syndrome patients. PMID: 12872256
8. BBS2 and BBS4 localized to cellular structures associated with motile cilia. PMID: 18299575
9. RET and BBS mutations modulate enteric innervation and cause syndromic Hirschsprung disease PMID: 19666486
10. Unaffected individuals in 2 pedigrees had 2 but not all 3 mutations that affecteds had which suggests that Bardet-Biedle syndrome might not be a single-gene recessive disease but a complex trait requiring three mutant alleles to manifest the phenotype. PMID: 11567139

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HGNC: 967

OMIM: 606151

KEGG: hsa:583

STRING: 9606.ENSP00000245157

UniGene: Hs.333738