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Recent update from: 24.03.2010

This site is maintained and edited by
Dr. rer. medic. Markus Preising, Dipl.Biol.
Laboratory of Molecular Ophthalmology
Department of Opthalmology
Justus-Liebig-University, Giessen, Germany
Head: Prof. Dr. med. Birgit Lorenz

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.
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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.
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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.
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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.
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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.
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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.
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10. 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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11. 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
    
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. Goto Top
    
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.
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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.
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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.
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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.
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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.
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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:
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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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