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Disease Database

Bardet Biedl Syndrome

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

Disease Gene locus MIM Gene Gene MIM MoI Assignment

Linked Marker [cM] Remarks References
type 1 BBS01 209900 BBS2L2 209901 ar 11q13

PYGM- D11S913, [D11S0887i- BBS1- D11S0406i- D11S1889]
  • Most prevalent mutation: M390R
  • Link(3)
    type 2 BBS02 209900 BBS2 606151 ar 16q13

    D16S2937- [2.69 cM- D16S408- 441f2-5a3-291f1- D16S2938- D16S673- 55019- 405f3- 152e5D16S3057]- 152e5- 700h13
    type 3 BBS03 209900 ARL6 600151 ar 3p13-12

    D3S3049- D3S1254- D3S1276- D3S1663- D3S1595- D3S3671- D3S2386- D3S1251- D3S1752- D3S1271- D3S3655- D3S1753- D3S1302 Israeli Bedouin
    extremely rare
    type 4 BBS04 209900 BBS4 600374 ar 15q22.3-23

    D15S131- D15S192, D15S125, D15S204, D15S114
  • PDP
  • Bedouin
  • Italian
  • Link(3)
    type 5 BBS05 603650

    ar 2q31

    pter- [~39 D2S442- D2S1399- D2S2241- D2S142- D2S418- D2S1353- D2S156- [13 D2S124- D2S330- D2S1776- D2S335- D2S1238]- D2S2314- D2S1391]- qter
  • Inbred Newfoundland family of European ancestry
  • PDP
  • Link(23)
    type 6 BBS06 209900 MKKS 604896 ar 20p12

    D20S115- [D20S851- MKKS- D20S189 20 cM]- D20S186, D20S160, [D20S162)]
  • RP
  • Polydactyly
  • Obesity
  • Learning disability
  • Diabetes melitus
  • Renal anomalies
  • Link(19)
    type 7 BBS07 209900 BBS2L1 607590 ar 4q27

    D4S402- S4S2394
    type 8 BBS08 209900 TTC8 608132 ar 14q32.1

    type 9 BBS09 209900 PTHB1 607968 ar 7p14

    type 10 BBS10 209900 C12orf58, FLJ23560 610148 ar 12q

    Major BBS Gene
    Only few triallelics
    Lebanese origin
    Fully penetrant
    type 11 BBS11 209900 TRIM32 602290 ar 9q33.1

    2.4 Mb region containing 83 SNPs-[GATA163E04- GATA27B07- D9S177- GGAT11B01- GGAT2B03- ATA42G04- GATA61W12- D9S1802-D9S1811- GT(23)- GATA116F11- GGAA23B10- D9S103- DF9S116- D9S123- GATA54A06]-
    type 12 BBS12 209900 FLJ35630 610683 ar 4q27

  • 5% of all BBS cases predicted
  • Gypsy families
  • Homozygosity mapping with small families
  • Link(21)
    mental retardation, truncal obesity, retinal dystrophy, and micropenis MORM 610156

    ar 9q34

    D9S164- D9S1818- D9S298- D9S312- D9S1826- D9S158- D9S905- D9S1838- D9S2168
  • Consanguineous
  • BBS1-8 and Cohen Syndrom excluded
  • Link(7)
    MoI = Mode of Inheritance: a: autosomal, ad: autosomal dominant, ar: autosomal recessive, xl: x-linked, mt: mitochondrial


    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.
      Link 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.
      Link Goto Top
    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.
      Link Goto Top
    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.
      Link Goto Top
    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.
      Link 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.
      Link 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.
      Link 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.
      Link Goto Top
    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.
      Link Goto Top
    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.
      Link Goto Top
    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.
      Link 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.
      Link 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.
      Link 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.
      Link Goto Top
    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.
      Link Goto Top
    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.
      Link 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.
      Link 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:
      Link 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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