KEGG DISEASE: Bardet-Biedl syndrome

DISEASE: Bardet-Biedl syndrome

Entry

H00418                      Disease

Name

Bardet-Biedl syndrome

Description

Bardet-Biedl syndrome (BBS) is a rare autosomal recessive disorder with genetic heterogeneity characterized by defects in multiple organ systems. The main features are retinal degeneration, obesity, hypogonadism, polydactyly, renal dysfunction, and mental retardation. BBS is typified by clinical variability observed both within and between families, which can be explained in part by the presence of second-site modifiers. Recent findings in genetic research have suggested that the BBS phenotype is largely associated with ciliary dysfunction.

Category

Inherited metabolic disorder

Brite

Human diseases in ICD-11 classification [BR:br08403]
20 Developmental anomalies
  Multiple developmental anomalies or syndromes
   LD2Y  Other specified multiple developmental anomalies or syndromes
    H00418  Bardet-Biedl syndrome

Gene

(BBS1) BBS1 [HSA:582] [KO:K16746]
(BBS2) BBS2 [HSA:583] [KO:K16747]
(BBS3) ARL6 [HSA:84100] [KO:K07951]
(BBS4) BBS4 [HSA:585] [KO:K16531]
(BBS5) BBS5 [HSA:129880] [KO:K16748]
(BBS6) MKKS [HSA:8195] [KO:K09492]
(BBS7) BBS7 [HSA:55212] [KO:K16749]
(BBS8) TTC8 [HSA:123016] [KO:K16781]
(BBS9) BBS9 [HSA:27241] [KO:K19398]
(BBS10) BBS10 [HSA:79738] [KO:K19401]
(BBS11) TRIM32 [HSA:22954] [KO:K10607]
(BBS12) BBS12 [HSA:166379] [KO:K19402]
(BBS13) MKS1 [HSA:54903] [KO:K19332]
(BBS14) CEP290 [HSA:80184] [KO:K16533]
(BBS15) WDPCP [HSA:51057] [KO:K22863]
(BBS16) SDCCAG8 [HSA:10806] [KO:K16488]
(BBS17) LZTFL1 [HSA:54585] [KO:K19400]
(BBS18) BBIP1 [HSA:92482] [KO:K19399]
(BBS19) IFT27 [HSA:11020] [KO:K07934]
(BBS20) IFT172 [HSA:26160] [KO:K19676]
(BBS21) CFAP418 [HSA:157657] [KO:K25226]
(BBS22) IFT74 [HSA:80173] [KO:K19679]

Other DBs

ICD-11:

LD2Y

ICD-10:

Q87.8

MeSH:

D020788

OMIM:

209900 615981 600151 615982 615983 605231 615984 615985 615986 615987 615988 615989 615990 615991 615992 615993 615994 615995 615996 619471 617406 617119

Reference

PMID:14976158

Authors

Katsanis N

Title

The oligogenic properties of Bardet-Biedl syndrome.

Journal

Hum Mol Genet 13 Spec No 1:R65-71 (2004)
DOI:10.1093/hmg/ddh092

Reference

PMID:19252258

Authors

Zaghloul NA, Katsanis N

Title

Mechanistic insights into Bardet-Biedl syndrome, a model ciliopathy.

Journal

J Clin Invest 119:428-37 (2009)
DOI:10.1172/JCI37041

Reference

PMID:12118255 (BBS1)

Authors

Mykytyn K, Nishimura DY, Searby CC, Shastri M, Yen HJ, Beck JS, Braun T, Streb LM, Cornier AS, Cox GF, Fulton AB, Carmi R, Luleci G, Chandrasekharappa SC, Collins FS, Jacobson SG, Heckenlively JR, Weleber RG, Stone EM, Sheffield VC

Title

Identification of the gene (BBS1) most commonly involved in Bardet-Biedl syndrome, a complex human obesity syndrome.

Journal

Nat Genet 31:435-8 (2002)
DOI:10.1038/ng935

Reference

PMID:11285252 (BBS2)

Authors

Nishimura DY, Searby CC, Carmi R, Elbedour K, Van Maldergem L, Fulton AB, Lam BL, Powell BR, Swiderski RE, Bugge KE, Haider NB, Kwitek-Black AE, Ying L, Duhl DM, Gorman SW, Heon E, Iannaccone A, Bonneau D, Biesecker LG, Jacobson SG, Stone EM, Sheffield VC

Title

Positional cloning of a novel gene on chromosome 16q causing Bardet-Biedl syndrome (BBS2).

Journal

Hum Mol Genet 10:865-74 (2001)
DOI:10.1093/hmg/10.8.865

Reference

PMID:15258860 (BBS3)

Authors

Chiang AP, Nishimura D, Searby C, Elbedour K, Carmi R, Ferguson AL, Secrist J, Braun T, Casavant T, Stone EM, Sheffield VC

Title

Comparative genomic analysis identifies an ADP-ribosylation factor-like gene as the cause of Bardet-Biedl syndrome (BBS3).

Journal

Am J Hum Genet 75:475-84 (2004)
DOI:10.1086/423903

Reference

PMID:12016587 (BBS4)

Authors

Katsanis N, Eichers ER, Ansley SJ, Lewis RA, Kayserili H, Hoskins BE, Scambler PJ, Beales PL, Lupski JR

Title

BBS4 is a minor contributor to Bardet-Biedl syndrome and may also participate in triallelic inheritance.

Journal

Am J Hum Genet 71:22-9 (2002)
DOI:10.1086/341031

Reference

PMID:18203199 (BBS5)

Authors

Hjortshoj TD, Gronskov K, Philp AR, Nishimura DY, Adeyemo A, Rotimi CN, Sheffield VC, Rosenberg T, Brondum-Nielsen K

Title

Novel mutations in BBS5 highlight the importance of this gene in non-Caucasian Bardet-Biedl syndrome patients.

Journal

Am J Med Genet A 146A:517-20 (2008)
DOI:10.1002/ajmg.a.32136

Reference

PMID:10973251 (BBS6)

Authors

Katsanis N, Beales PL, Woods MO, Lewis RA, Green JS, Parfrey PS, Ansley SJ, Davidson WS, Lupski JR

Title

Mutations in MKKS cause obesity, retinal dystrophy and renal malformations associated with Bardet-Biedl syndrome.

Journal

Nat Genet 26:67-70 (2000)
DOI:10.1038/79201

Reference

PMID:12567324 (BBS7)

Authors

Badano JL, Ansley SJ, Leitch CC, Lewis RA, Lupski JR, Katsanis N

Title

Identification of a novel Bardet-Biedl syndrome protein, BBS7, that shares structural features with BBS1 and BBS2.

Journal

Am J Hum Genet 72:650-8 (2003)
DOI:10.1086/368204

Reference

PMID:16308660 (BBS8)

Authors

Stoetzel C, Laurier V, Faivre L, Megarbane A, Perrin-Schmitt F, Verloes A, Bonneau D, Mandel JL, Cossee M, Dollfus H

Title

BBS8 is rarely mutated in a cohort of 128 Bardet-Biedl syndrome families.

Journal

J Hum Genet 51:81-84 (2006)
DOI:10.1007/s10038-005-0320-2

Reference

PMID:16380913 (BBS9)

Authors

Nishimura DY, Swiderski RE, Searby CC, Berg EM, Ferguson AL, Hennekam R, Merin S, Weleber RG, Biesecker LG, Stone EM, Sheffield VC

Title

Comparative genomics and gene expression analysis identifies BBS9, a new Bardet-Biedl syndrome gene.

Journal

Am J Hum Genet 77:1021-33 (2005)
DOI:10.1086/498323

Reference

PMID:16582908 (BBS10)

Authors

Stoetzel C, Laurier V, Davis EE, Muller J, Rix S, Badano JL, Leitch CC, Salem N, Chouery E, Corbani S, Jalk N, Vicaire S, Sarda P, Hamel C, Lacombe D, Holder M, Odent S, Holder S, Brooks AS, Elcioglu NH, Silva ED, Rossillion B, Sigaudy S, de Ravel TJ, Lewis RA, Leheup B, Verloes A, Amati-Bonneau P, Megarbane A, Poch O, Bonneau D, Beales PL, Mandel JL, Katsanis N, Dollfus H

Title

BBS10 encodes a vertebrate-specific chaperonin-like protein and is a major BBS locus.

Journal

Nat Genet 38:521-4 (2006)
DOI:10.1038/ng1771

Reference

PMID:16606853 (BBS11)

Authors

Chiang AP, Beck JS, Yen HJ, Tayeh MK, Scheetz TE, Swiderski RE, Nishimura DY, Braun TA, Kim KY, Huang J, Elbedour K, Carmi R, Slusarski DC, Casavant TL, Stone EM, Sheffield VC

Title

Homozygosity mapping with SNP arrays identifies TRIM32, an E3 ubiquitin ligase, as a Bardet-Biedl syndrome gene (BBS11).

Journal

Proc Natl Acad Sci U S A 103:6287-92 (2006)
DOI:10.1073/pnas.0600158103

Reference

PMID:17160889 (BBS12)

Authors

Stoetzel C, Muller J, Laurier V, Davis EE, Zaghloul NA, Vicaire S, Jacquelin C, Plewniak F, Leitch CC, Sarda P, Hamel C, de Ravel TJ, Lewis RA, Friederich E, Thibault C, Danse JM, Verloes A, Bonneau D, Katsanis N, Poch O, Mandel JL, Dollfus H

Title

Identification of a novel BBS gene (BBS12) highlights the major role of a vertebrate-specific branch of chaperonin-related proteins in Bardet-Biedl syndrome.

Journal

Am J Hum Genet 80:1-11 (2007)
DOI:10.1086/510256

Reference

PMID:18327255 (BBS13 BBS14)

Authors

Leitch CC, Zaghloul NA, Davis EE, Stoetzel C, Diaz-Font A, Rix S, Alfadhel M, Lewis RA, Eyaid W, Banin E, Dollfus H, Beales PL, Badano JL, Katsanis N

Title

Hypomorphic mutations in syndromic encephalocele genes are associated with Bardet-Biedl syndrome.

Journal

Nat Genet 40:443-8 (2008)
DOI:10.1038/ng.97

Reference

PMID:20671153 (BBS15)

Authors

Kim SK, Shindo A, Park TJ, Oh EC, Ghosh S, Gray RS, Lewis RA, Johnson CA, Attie-Bittach T, Katsanis N, Wallingford JB

Title

Planar cell polarity acts through septins to control collective cell movement and ciliogenesis.

Journal

Science 329:1337-40 (2010)
DOI:10.1126/science.1191184

Reference

PMID:22626039 (BBS16)

Authors

Billingsley G, Vincent A, Deveault C, Heon E

Title

Mutational analysis of SDCCAG8 in Bardet-Biedl syndrome patients with renal involvement and absent polydactyly.

Journal

Ophthalmic Genet 33:150-4 (2012)
DOI:10.3109/13816810.2012.689411

Reference

PMID:22510444 (BBS17)

Authors

Marion V, Stutzmann F, Gerard M, De Melo C, Schaefer E, Claussmann A, Helle S, Delague V, Souied E, Barrey C, Verloes A, Stoetzel C, Dollfus H

Title

Exome sequencing identifies mutations in LZTFL1, a BBSome and smoothened trafficking regulator, in a family with Bardet--Biedl syndrome with situs inversus and insertional polydactyly.

Journal

J Med Genet 49:317-21 (2012)
DOI:10.1136/jmedgenet-2012-100737

Reference

PMID:24026985 (BBS18)

Authors

Scheidecker S, Etard C, Pierce NW, Geoffroy V, Schaefer E, Muller J, Chennen K, Flori E, Pelletier V, Poch O, Marion V, Stoetzel C, Strahle U, Nachury MV, Dollfus H

Title

Exome sequencing of Bardet-Biedl syndrome patient identifies a null mutation in the BBSome subunit BBIP1 (BBS18).

Journal

J Med Genet 51:132-6 (2014)
DOI:10.1136/jmedgenet-2013-101785

Reference

PMID:24488770 (BBS19)

Authors

Aldahmesh MA, Li Y, Alhashem A, Anazi S, Alkuraya H, Hashem M, Awaji AA, Sogaty S, Alkharashi A, Alzahrani S, Al Hazzaa SA, Xiong Y, Kong S, Sun Z, Alkuraya FS

Title

IFT27, encoding a small GTPase component of IFT particles, is mutated in a consanguineous family with Bardet-Biedl syndrome.

Journal

Hum Mol Genet 23:3307-15 (2014)
DOI:10.1093/hmg/ddu044

Reference

PMID:25168386 (BBS20)

Authors

Bujakowska KM, Zhang Q, Siemiatkowska AM, Liu Q, Place E, Falk MJ, Consugar M, Lancelot ME, Antonio A, Lonjou C, Carpentier W, Mohand-Said S, den Hollander AI, Cremers FP, Leroy BP, Gai X, Sahel JA, van den Born LI, Collin RW, Zeitz C, Audo I, Pierce EA

Title

Mutations in IFT172 cause isolated retinal degeneration and Bardet-Biedl syndrome.

Journal

Hum Mol Genet 24:230-42 (2015)
DOI:10.1093/hmg/ddu441

Reference

PMID:27008867 (BBS21)

Authors

Heon E, Kim G, Qin S, Garrison JE, Tavares E, Vincent A, Nuangchamnong N, Scott CA, Slusarski DC, Sheffield VC

Title

Mutations in C8ORF37 cause Bardet Biedl syndrome (BBS21).

Journal

Hum Mol Genet 25:2283-2294 (2016)
DOI:10.1093/hmg/ddw096

Reference

PMID:27486776 (BBS22)

Authors

Lindstrand A, Frangakis S, Carvalho CM, Richardson EB, McFadden KA, Willer JR, Pehlivan D, Liu P, Pediaditakis IL, Sabo A, Lewis RA, Banin E, Lupski JR, Davis EE, Katsanis N

Title

Copy-Number Variation Contributes to the Mutational Load of Bardet-Biedl Syndrome.

Journal

Am J Hum Genet 99:318-36 (2016)
DOI:10.1016/j.ajhg.2015.04.023

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Gene (44)   
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