Disease Database Bardet Biedl Syndrome

Recent update from: 29.11.2006

MoI = Mode of Inheritance: a: autosomal, ad: autosomal dominant, ar: autosomal recessive, xl: x-linked, mt: mitochondrial

References

1. Ansley,S.J., Badano,J.L., Blacque,O.E., Hill,J., Hoskins,B.E., Leitch,C.C., Kim,J.C., Ross,A.J., Eichers,E.R., Teslovich,T.M., Mah,A.K., Johnsen,R.C., Cavender,J.C., Lewis,R.A., Leroux,M.R., Beales,P.L., and Katsanis,N. Basal body dysfunction is a likely cause of pleiotropic Bardet-Biedl syndrome. 2003; Nature. 425: 628-633. Goto Top
   
2. Badano,J.L., Ansley,S.J., Leitch,C.C., Lewis,R.A., Lupski,J.R., and Katsanis,N. Identification of a Novel Bardet-Biedl Syndrome Protein, BBS7, That Shares Structural Features with BBS1 and BBS2. 2003; Am.J.Hum.Genet. 72: 650-658.
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3. Bruford,E.A., Riise,R., Teague,P.W., Porter,K., Thomson,K.L., Moore,A.T., Jay,M., Warburg,M., Schinzel,A., Tommerup,N., Tornqvist,K., Rosenberg,T., Patton,M., Mansfield,D.C., and Wright,A.F. Linkage mapping in 29 Bardet-Biedl syndrome families confirms loci in chromosomal regions 11q13, 15q22.3-q23, and 16q21. 1997; Genomics. 41: 93-99.
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4. Carmi,R., Rokhlina,T., Kwitek Black,A.E., Elbedour,K., Nishimura,D., Stone,E.M., and Sheffield,V.C. Use of a DNA pooling strategy to identify a human obesity syndrome locus on chromosome 15. 1995; Hum.Mol.Genet. 4: 9-13.
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5. Chiang,A.P., Beck,J.S., Yen,H.J., Tayeh,M.K., Scheetz,T.E., Swiderski,R.E., Nishimura,D.Y., Braun,T.A., Kim,K.Y., Huang,J., Elbedour,K., Carmi,R., Slusarski,D.C., Casavant,T.L., Stone,E.M., and Sheffield,V.C. Homozygosity mapping with SNP arrays identifies TRIM32, an E3 ubiquitin ligase, as a Bardet-Biedl syndrome gene (BBS11). 2006; Proc.Natl.Acad.Sci.U.S.A. 103: 6287-6292. Goto Top
   
6. Chiang,A.P., Nishimura,D., Searby,C., Elbedour,K., Carmi,R., Ferguson,A.L., Secrist,J., Braun,T., Casavant,T., Stone,E.M., and Sheffield,V.C. Comparative genomic analysis identifies an ADP-ribosylation factor-like gene as the cause of Bardet-Biedl syndrome (BBS3). 2004; Am.J.Hum.Genet. 75: 475-484. Goto Top
   
7. Hampshire,D.J., Ayub,M., Springell,K., Roberts,E., Jafri,H., Rashid,Y., Bond,J., Riley,J.H., and Woods,C.G. MORM syndrome (mental retardation, truncal obesity, retinal dystrophy and micropenis), a new autosomal recessive disorder, links to 9q34. 2006; Eur.J.Hum.Genet. 14: 543-548. Goto Top
   
8. Hichri,H., Stoetzel,C., Laurier,V., Caron,S., Sigaudy,S., Sarda,P., Hamel,C., Martin-Coignard,D., Gilles,M., Leheup,B., Holder,M., Kaplan,J., Bitoun,P., Lacombe,D., Verloes,A., Bonneau,D., Perrin-Schmitt,F., Brandt,C., Besancon,A.F., Mandel,J.L., Cossee,M., and Dollfus,H. Testing for triallelism: analysis of six BBS genes in a Bardet-Biedl syndrome family cohort. 2005; Eur.J.Hum.Genet. 13: 607-616. Goto Top
   
9. Katsanis,N., Beales,P.L., Woods,M.O., Lewis,R.A., Green,J.S., Parfrey,P.S., Ansley,S.J., Davidson,W.S., and Lupski,J.R. Mutations in MKKS cause obesity, retinal dystrophy and renal malformations associated with Bardet-Biedl syndrome. 2000; Nat.Genet. 26: 67-70. Goto Top
   
10. Kwitek-Black,A.E., Krizman,D., Cammi,R., Doggett,N., Stone,E.M., and Sheffield,V.C. Fine-mapping of Bardet-Biedl syndrome locus on chromosome 16. 1996; Invest.Ophthalmol.Vis.Sci. 37: S1123 Goto Top
    
11. Kwitek Black,A.E., Carmi,R., Duyk,G.M., Buetow,K.H., Elbedour,K., Parvari,R., Yandava,C.N., Stone,E.M., and Sheffield,V.C. Linkage of Bardet-Biedl syndrome to chromosome 16q and evidence for non-allelic genetic heterogeneity. 1993; Nat.Genet. 5: 392-396.
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12. Leppert,M., Baird,L., Anderson,K.L., Otterud,B., Lupski,J.R., and Lewis,R.A. Bardet-Biedl syndrome is linked to DNA markers on chromosome 11q and is genetically heterogeneous. 1994; Nat.Genet. 7: 108-112.
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13. Mykytyn,K., Braun,T., Carmi,R., Haider,N.B., Searby,C.C., Shastri,M., Beck,G., Wright,A.F., Iannaccone,A., Elbedour,K., Riise,R., Baldi,A., Raas-Rothschild,A., Gorman,S.W., Duhl,D.M., Jacobson,S.G., Casavant,T., Stone,E.M., and Sheffield,V.C. Identification of the gene that, when mutated, causes the human obesity syndrome BBS4. 2001; Nat.Genet. 28: 188-191.
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14. Mykytyn,K., Nishimura,D.Y., Searby,C.C., Shastri,M., Yen,H.J., Beck,J.S., Braun,T., Streb,L.M., Cornier,A.S., Cox,G.F., Fulton,A.B., Carmi,R., Luleci,G., Chandrasekharappa,S.C., Collins,F.S., Jacobson,S.G., Heckenlively,J.R., Weleber,R.G., Stone,E.M., and Sheffield,V.C. Identification of the gene (BBS1) most commonly involved in Bardet-Biedl syndrome, a complex human obesity syndrome. 2002; Nat.Genet. 31: 435-438. Goto Top
    
15. Nishimura,D.Y., Searby,C.C., Carmi,R., Elbedour,K., Maldergem,L.V., Fulton,A.B., Lam,B.L., Powell,B.R., Swiderski,R.E., Bugge,K.E., Haider,N.B., Kwitek-Black,A.E., Ying,L., Duhl,D.M., Gorman,S.W., Heon,E., Iannaccone,A., Bonneau,D., Biesecker,L.G., Jacobson,S.G., Stone,E.M., and Sheffield,V.C. Positional cloning of a novel gene on chromosome 16q causing Bardet-Biedl syndrome (BBS2). 2001; Hum.Mol.Genet. 10: 865-874. Goto Top
    
16. Nishimura,D.Y., Swiderski,R.E., Searby,C.C., Berg,E.M., Ferguson,A.L., Hennekam,R., Merin,S., Weleber,R.G., Biesecker,L.G., Stone,E.M., and Sheffield,V.C. Comparative genomics and gene expression analysis identifies BBS9, a new Bardet-Biedl syndrome gene. 2005; Am J Hum Genet. 77: 1021-1033. Goto Top
    
17. Riise,R., Tornqvist,K., Wright,A.F., Mykytyn,K., and Sheffield,V.C. The phenotype in Norwegian patients with Bardet-Biedl syndrome with mutations in the BBS4 gene. 2002; Arch.Ophthalmol. 120: 1364-1367.
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18. Sheffield,V.C., Carmi,R., Kwitek Black,A., Rokhlina,T., Nishimura,D., Duyk,G.M., Elbedour,K., Sunden,S.L., and Stone,E.M. Identification of a Bardet-Biedl syndrome locus on chromosome 3 and evaluation of an efficient approach to homozygosity mapping. 1994; Hum.Mol.Genet. 3: 1331-1335.
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19. Slavotinek,A.M., Stone,E.M., Mykytyn,K., Heckenlively,J.R., Green,J.S., Heon,E., Musarella,M.A., Parfrey,P.S., Sheffield,V.C., and Biesecker,L.G. Mutations in MKKS cause Bardet-Biedl syndrome. 2000; Nat.Genet. 26: 15-16. Goto Top
    
20. Stoetzel,C., Laurier,V., Davis,E.E., Muller,J., Rix,S., Badano,J.L., Leitch,C.C., Salem,N., Chouery,E., Corbani,S., Jalk,N., Vicaire,S., Sarda,P., Hamel,C., Lacombe,D., Holder,M., Odent,S., Holder,S., Brooks,A.S., Elcioglu,N.H., Da Silva,E., Rossillion,B., Sigaudy,S., de Ravel,T.J., Alan,L.R., Leheup,B., Verloes,A., Amati-Bonneau,P., Megarbane,A., Poch,O., Bonneau,D., Beales,P.L., Mandel,J.L., Katsanis,N., and Dollfus,H. BBS10 encodes a vertebrate-specific chaperonin-like protein and is a major BBS locus. 2006; Nat.Genet. 38: 521-524. Goto Top
    
21. Stoetzel,C., Muller,J., Laurier,V., Davis,E.E., Zaghloul,N.A., Vicaire,S., Jacquelin,C., Plewniak,F., Leitch,C.C., Sarda,P., Hamel,C., de Ravel,T.J.L., Lewis,R.A., Friederich,E., Thibault,C., Danse,J.M., Verloes,A., Bonneau,D., Katsanis,N., Poch,O., Mandel,J.L., and Dollfus,H. Identification of a Novel BBS Gene (BBS12) Highlights the Major Role of a Vertebrate-Specific Branch of Chaperonin-Related Proteins in Bardet-Biedl Syndrome. 2007; Am.J.Hum.Genet. 80: Goto Top
    
22. Wright,A.F., Bruford,E.A., Thomson,K.L., Riise,R., Jay,M., Patton,M.A., Jeffery,S., Schinzel,A., Tommerup,N., Teague,P.W., and Mansfield,D.C. Genetic linkage analysis in 26 families with Bardet-Biedl syndrome. 1995; Invest.Ophthalmol.Vis.Sci. Suppl.: S774 Goto Top
    
23. Young,T.L., Penney,L., Woods,M.O., Parfrey,P.S., Green,J.S., Hefferton,D., and Davidson,W.S. A fifth locus for Bardet-Biedl syndrome maps to chromosome 2q31. 1999; Am.J.Hum.Genet. 64: 900-904.
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Contact the editor	Return to Disease Database Page	This site is maintained and edited by Dr. rer. medic. Markus Preising, Dipl.Biol. Molecular Genetics Laboratory Department of Paediatric Ophthalmology, Strabismology and Ophthalmogenetics University of Regensburg Head: Prof. Dr. med. Birgit Lorenz