{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,31]],"date-time":"2026-10-31T02:10:27Z","timestamp":1793412627584,"version":"4.5.0"},"reference-count":38,"publisher":"Springer Science and Business Media LLC","issue":"2","license":[{"start":{"date-parts":[[2006,11,15]],"date-time":"2006-11-15T00:00:00Z","timestamp":1163548800000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/www.springer.com\/tdm"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Eur J Hum Genet"],"published-print":{"date-parts":[[2007,2]]},"DOI":"10.1038\/sj.ejhg.5201736","type":"journal-article","created":{"date-parts":[[2006,11,16]],"date-time":"2006-11-16T00:12:11Z","timestamp":1163635931000},"page":"173-178","source":"Crossref","is-referenced-by-count":23,"title":["Autozygosity mapping of Bardet\u2013Biedl syndrome to 12q21.2 and confirmation of FLJ23560 as BBS10"],"prefix":"10.1038","volume":"15","author":[{"given":"Dominic R A","family":"White","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anuradha","family":"Ganesh","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Darryl","family":"Nishimura","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Eleanor","family":"Rattenberry","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Shakeel","family":"Ahmed","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ursula M","family":"Smith","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Shanaz","family":"Pasha","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sandy","family":"Raeburn","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Richard C","family":"Trembath","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anna","family":"Rajab","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Fiona","family":"Macdonald","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Eyal","family":"Banin","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Edwin M","family":"Stone","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Colin A","family":"Johnson","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Val C","family":"Sheffield","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Eamonn R","family":"Maher","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2006,11,15]]},"reference":[{"key":"BF5201736_CR1","doi-asserted-by":"publisher","first-page":"1002","DOI":"10.1056\/NEJM198910123211503","volume":"321","author":"JS Green","year":"1989","unstructured":"Green JS, Parfrey PS, Harnett JD et al: The cardinal manifestations of Bardet\u2013Biedl syndrome, a form of Lawrence\u2013Moon\u2013Bardet\u2013Biedl syndrome. N Engl J Med 1989; 321: 1002\u20131009.","journal-title":"N Engl J Med"},{"key":"BF5201736_CR2","doi-asserted-by":"publisher","first-page":"479","DOI":"10.1016\/0022-510X(69)90091-4","volume":"9","author":"D Klein","year":"1969","unstructured":"Klein D, Ammann F : The syndrome of Laurence\u2013Moon\u2013Bardet\u2013Biedl and allied diseases in Switzerland. Clinical, genetic and epidemiological studies. J Neurol Sci 1969; 9: 479\u2013513.","journal-title":"J Neurol Sci"},{"key":"BF5201736_CR3","doi-asserted-by":"publisher","first-page":"92","DOI":"10.1136\/jmg.34.2.92","volume":"34","author":"PL Beales","year":"1997","unstructured":"Beales PL, Warner AM, Hitman GA, Thakker R, Flinter FA : Bardet\u2013Biedl syndrome: a molecular and phenotypic study of 18 families. J Med Genet 1997; 34: 92\u201398.","journal-title":"J Med Genet"},{"key":"BF5201736_CR4","doi-asserted-by":"publisher","first-page":"12","DOI":"10.1002\/ajmg.1320550105","volume":"55","author":"JB Croft","year":"1995","unstructured":"Croft JB, Morrell D, Chase CL, Swift M : Obesity in heterozygous carriers of the gene for the Bardet\u2013Biedl syndrome. Am J Med Genet 1995; 55: 12\u201315.","journal-title":"Am J Med Genet"},{"key":"BF5201736_CR5","doi-asserted-by":"publisher","first-page":"463","DOI":"10.1111\/j.1399-0004.1989.tb03378.x","volume":"36","author":"TI Farag","year":"1989","unstructured":"Farag TI, Teebi AS : High incidence of Bardet\u2013Biedl syndrome among the Bedouin. Clin Genet 1989; 36: 463\u2013464.","journal-title":"Clin Genet"},{"key":"BF5201736_CR6","doi-asserted-by":"publisher","first-page":"27","DOI":"10.1159\/000083334","volume":"8","author":"A Rajab","year":"2005","unstructured":"Rajab A, Bappal B, Al-Shaikh H, Al-Khusaibi S, Mohammed AJ : Common autosomal recessive diseases in Oman derived from a hospital-based registry. Commun Genet 2005; 8: 27\u201330.","journal-title":"Commun Genet"},{"key":"BF5201736_CR7","doi-asserted-by":"publisher","first-page":"392","DOI":"10.1038\/ng1293-392","volume":"5","author":"AE Kwitek-Black","year":"1993","unstructured":"Kwitek-Black AE, Carmi R, Duyk GM et al: Linkage of Bardet\u2013Biedl syndrome to chromosome 16q and evidence for non-allelic genetic heterogeneity. Nature Genet 1993; 5: 392\u2013396.","journal-title":"Nature Genet"},{"key":"BF5201736_CR8","doi-asserted-by":"publisher","first-page":"1331","DOI":"10.1093\/hmg\/3.8.1331","volume":"3","author":"VC Sheffield","year":"1994","unstructured":"Sheffield VC, Carmi R, Kwitek-Black A et al: Identification of a Bardet\u2013Biedl syndrome locus on chromosome 3 and evaluation of an efficient approach to homozygosity mapping. Hum Molec Genet 1994; 3: 1331\u20131335.","journal-title":"Hum Molec Genet"},{"key":"BF5201736_CR9","doi-asserted-by":"publisher","first-page":"199","DOI":"10.1002\/ajmg.1320590216","volume":"59","author":"R Carmi","year":"1995","unstructured":"Carmi R, Elbedour K, Stone EM, Sheffield VC : Phenotypic differences among patients with Bardet\u2013Biedl syndrome linked to three different chromosome loci. Am J Med Genet 1995; 59: 199\u2013203.","journal-title":"Am J Med Genet"},{"key":"BF5201736_CR10","doi-asserted-by":"publisher","first-page":"901","DOI":"10.1086\/302301","volume":"64","author":"T-L Young","year":"1999","unstructured":"Young T-L, Penney L, Woods MO et al: A fifth locus for Bardet\u2013Biedl syndrome maps to chromosome 2q31. Am J Hum Genet 1999; 64: 901\u2013904.","journal-title":"Am J Hum Genet"},{"key":"BF5201736_CR11","doi-asserted-by":"publisher","first-page":"67","DOI":"10.1038\/79201","volume":"26","author":"N Katsanis","year":"2000","unstructured":"Katsanis N, Beales PL, Woods MO et al: Mutations in MKKS cause obesity, retinal dystrophy and renal malformations associated with Bardet\u2013Biedl syndrome. Nat Genet 2000; 26: 67\u201370.","journal-title":"Nat Genet"},{"key":"BF5201736_CR12","doi-asserted-by":"publisher","first-page":"15","DOI":"10.1038\/79116","volume":"26","author":"AM Slavotinek","year":"2000","unstructured":"Slavotinek AM, Stone EM, Mykytyn K et al: Mutations in MKKS cause Bardet\u2013Biedl syndrome. Nat Genet 2000; 26: 15\u201316.","journal-title":"Nat Genet"},{"key":"BF5201736_CR13","doi-asserted-by":"publisher","first-page":"188","DOI":"10.1038\/88925","volume":"28","author":"K Mykytyn","year":"2001","unstructured":"Mykytyn K, Braun T, Carmi R et al: Identification of the gene that, when mutated, causes the human obesity syndrome BBS4. Nat Genet 2001; 28: 188\u2013191.","journal-title":"Nat Genet"},{"key":"BF5201736_CR14","doi-asserted-by":"publisher","first-page":"865","DOI":"10.1093\/hmg\/10.8.865","volume":"10","author":"DY Nishimura","year":"2001","unstructured":"Nishimura DY, Searby CC, Carmi R et al: Positional cloning of a novel gene on chromosome 16q causing Bardet\u2013Biedl syndrome (BBS2). Hum Molec Genet 2001; 10: 865\u2013874.","journal-title":"Hum Molec Genet"},{"key":"BF5201736_CR15","doi-asserted-by":"publisher","first-page":"435","DOI":"10.1038\/ng935","volume":"31","author":"K Mykytyn","year":"2002","unstructured":"Mykytyn K, Nishimura DY, Searby CC et al: Identification of the gene (BBS1) most commonly involved in Bardet\u2013Biedl syndrome, a complex human obesity syndrome. Nat Genet 2002; 31: 435\u2013438.","journal-title":"Nat Genet"},{"key":"BF5201736_CR16","doi-asserted-by":"publisher","first-page":"628","DOI":"10.1038\/nature02030","volume":"425","author":"SJ Ansley","year":"2003","unstructured":"Ansley SJ, Badano JL, Blacque OE et al: Basal body dysfunction is a likely cause of pleiotropic Bardet\u2013Biedl syndrome. Nature 2003; 425: 628\u2013633.","journal-title":"Nature"},{"key":"BF5201736_CR17","doi-asserted-by":"publisher","first-page":"475","DOI":"10.1086\/423903","volume":"75","author":"AP Chiang","year":"2004","unstructured":"Chiang AP, Nishimura D, Searby C et al: Comparative genomic analysis identifies an ADP-ribosylation factor-like gene as the cause of Bardet\u2013Biedl syndrome (BBS3). Am J Hum Genet 2004; 75: 475\u2013484.","journal-title":"Am J Hum Genet"},{"key":"BF5201736_CR18","doi-asserted-by":"publisher","first-page":"989","DOI":"10.1038\/ng1414","volume":"36","author":"Y Fan","year":"2004","unstructured":"Fan Y, Esmail MA, Ansley SJ et al: Mutations in a member of the Ras superfamily of small GTP-binding proteins causes Bardet\u2013Biedl syndrome. Nat Genet 2004; 36: 989\u2013993.","journal-title":"Nat Genet"},{"key":"BF5201736_CR19","doi-asserted-by":"publisher","first-page":"541","DOI":"10.1016\/S0092-8674(04)00450-7","volume":"117","author":"JB Li","year":"2004","unstructured":"Li JB, Gerdes JM, Haycraft CJ et al: Comparative genomics identifies a flagellar and basal body proteome that includes the BBS5 human disease gene. Cell 2004; 117: 541\u2013552.","journal-title":"Cell"},{"key":"BF5201736_CR20","doi-asserted-by":"publisher","first-page":"1021","DOI":"10.1086\/498323","volume":"77","author":"DY Nishimura","year":"2005","unstructured":"Nishimura DY, Swiderski RE, Searby CC et al: Comparative genomics and gene expression analysis identifies BBS9, a new Bardet\u2013Biedl syndrome gene. Am J Hum Genet 2005; 77: 1021\u20131033.","journal-title":"Am J Hum Genet"},{"key":"BF5201736_CR21","doi-asserted-by":"crossref","unstructured":"Stoetzel C, Laurier V, Davis EE et al: BBS10 encodes a vertebrate-specific chaperonin-like protein and is a major BBS locus. Nat Genet, 2 April 2006 (E-pub ahead of print).","DOI":"10.1038\/ng1771"},{"key":"BF5201736_CR22","doi-asserted-by":"crossref","unstructured":"Chiang AP, Beck JS, Yen HJ et al: Homozygosity mapping with SNP arrays identifies TRIM32, an E3 ubiquitin ligase, as a Bardet\u2013Biedl syndrome gene (BBS11). Proc Natl Acad Sci USA, 10 April 2006 (E-pub ahead of print).","DOI":"10.1073\/pnas.0600158103"},{"key":"BF5201736_CR23","doi-asserted-by":"publisher","first-page":"400","DOI":"10.1038\/ng1325","volume":"36","author":"P Gissen","year":"2004","unstructured":"Gissen P, Johnson CA, Morgan NV et al: Mutations in VPS33B, encoding a regulator of SNARE-dependent membrane fusion, cause arthrogryposis-renal dysfunction-cholestasis (ARC) syndrome. Nat Genet 2004; 36: 400\u2013404.","journal-title":"Nat Genet"},{"key":"BF5201736_CR24","doi-asserted-by":"publisher","first-page":"E125","DOI":"10.1136\/jmg.2004.023663","volume":"41","author":"T Forshew","year":"2004","unstructured":"Forshew T, Johnson CA : SCAMP: a spreadsheet to collate autozygosity mapping projects. J Med Genet 2004; 41: E125.","journal-title":"J Med Genet"},{"key":"BF5201736_CR25","doi-asserted-by":"publisher","first-page":"R65","DOI":"10.1093\/hmg\/ddh092","volume":"13","author":"N Katsanis","year":"2004","unstructured":"Katsanis N : The oligogenic properties of Bardet\u2013Biedl syndrome. Hum Mol Genet 2004; 13: R65\u2013R71.","journal-title":"Hum Mol Genet"},{"key":"BF5201736_CR26","doi-asserted-by":"publisher","first-page":"961","DOI":"10.1038\/ng0906-961","volume":"38","author":"A Gherman","year":"2006","unstructured":"Gherman A, Davis EE, Katsanis N : The ciliary proteome database: an integrated community resource for the genetic and functional dissection of cilia. Nat Genet 2006; 38: 961\u2013962.","journal-title":"Nat Genet"},{"key":"BF5201736_CR27","doi-asserted-by":"publisher","first-page":"1007","DOI":"10.1242\/jcs.01676","volume":"118","author":"JC Kim","year":"2005","unstructured":"Kim JC, Ou YY, Badano JL et al: MKKS\/BBS6, a divergent chaperonin-like protein linked to the obesity disorder Bardet\u2013Biedl syndrome, is a novel centrosomal component required for cytokinesis. J Cell Sci 2005; 118: 1007\u20131020.","journal-title":"J Cell Sci"},{"key":"BF5201736_CR28","doi-asserted-by":"publisher","first-page":"1630","DOI":"10.1101\/gad.1194004","volume":"18","author":"OE Blacque","year":"2004","unstructured":"Blacque OE, Reardon MJ, Li C et al: Loss of C. elegans BBS-7 and BBS-8 protein function results in cilia defects and compromised intraflagellar transport. Genes Dev 2004; 18: 1630\u20131642.","journal-title":"Genes Dev"},{"key":"BF5201736_CR29","doi-asserted-by":"publisher","first-page":"106","DOI":"10.1016\/j.molmed.2004.01.003","volume":"10","author":"K Mykytyn","year":"2004","unstructured":"Mykytyn K, Sheffield VC : Establishing a connection between cilia and Bardet\u2013Biedl syndrome. Trends Mol Med 2004; 10: 106\u2013109.","journal-title":"Trends Mol Med"},{"key":"BF5201736_CR30","doi-asserted-by":"publisher","first-page":"667","DOI":"10.1093\/hmg\/ddi468","volume":"15","author":"HJ Yen","year":"2006","unstructured":"Yen HJ, Tayeh MK, Mullins RF, Stone EM, Sheffield VC, Slusarski DC : Bardet\u2013Biedl syndrome genes are important in retrograde intracellular trafficking and Kupffer's vesicle cilia function. Hum Mol Genet 2006; 15: 667\u2013677.","journal-title":"Hum Mol Genet"},{"key":"BF5201736_CR31","doi-asserted-by":"publisher","first-page":"16588","DOI":"10.1073\/pnas.0405496101","volume":"101","author":"DY Nishimura","year":"2004","unstructured":"Nishimura DY, Fath M, Mullins RF et al: Bbs2-null mice have neurosensory deficits, a defect in social dominance, and retinopathy associated with mislocalization of rhodopsin. Proc Natl Acad Sci USA 2004; 101: 16588\u201316593.","journal-title":"Proc Natl Acad Sci USA"},{"key":"BF5201736_CR32","doi-asserted-by":"publisher","first-page":"1109","DOI":"10.1093\/hmg\/ddi123","volume":"14","author":"MA Fath","year":"2005","unstructured":"Fath MA, Mullins RF, Searby C et al: Mkks-null mice have a phenotype resembling Bardet\u2013Biedl syndrome. Hum Mol Genet 2005; 14: 1109\u20131118.","journal-title":"Hum Mol Genet"},{"key":"BF5201736_CR33","doi-asserted-by":"publisher","first-page":"462","DOI":"10.1038\/ng1352","volume":"36","author":"JC Kim","year":"2004","unstructured":"Kim JC, Badano JL, Sibold S et al: The Bardet\u2013Biedl protein BBS4 targets cargo to the pericentriolar region and is required for microtubule anchoring and cell cycle progression. Nat Genet 2004; 36: 462\u2013470.","journal-title":"Nat Genet"},{"key":"BF5201736_CR34","doi-asserted-by":"publisher","first-page":"1135","DOI":"10.1038\/ng1644","volume":"37","author":"AJ Ross","year":"2005","unstructured":"Ross AJ, May-Simera H, Eichers ER et al: Disruption of Bardet\u2013Biedl syndrome ciliary proteins perturbs planar cell polarity in vertebrates. Nat Genet 2005; 37: 1135\u20131140.","journal-title":"Nat Genet"},{"key":"BF5201736_CR35","doi-asserted-by":"publisher","first-page":"125","DOI":"10.1016\/S0092-8674(00)81152-6","volume":"93","author":"L Ditzel","year":"1998","unstructured":"Ditzel L, Lowe J, Stock D et al: Crystal structure of the thermosome, the archaeal chaperonin and homolog of CCT. Cell 1998; 93: 125\u2013138.","journal-title":"Cell"},{"key":"BF5201736_CR36","doi-asserted-by":"publisher","first-page":"2256","DOI":"10.1126\/science.1063525","volume":"293","author":"N Katsanis","year":"2001","unstructured":"Katsanis N, Ansley SJ, Badano JL et al: Triallelic inheritance in Bardet\u2013Biedl syndrome, a Mendelian recessive disorder. Science 2001; 293: 2256\u20132259.","journal-title":"Science"},{"key":"BF5201736_CR37","doi-asserted-by":"publisher","first-page":"1187","DOI":"10.1086\/375178","volume":"72","author":"PL Beales","year":"2003","unstructured":"Beales PL, Badano JL, Ross AJ et al: Genetic interaction of BBS1 mutations with alleles at other BBS loci can result in non-Mendelian Bardet\u2013Biedl syndrome. Am J Hum Genet 2003; 72: 1187\u20131199.","journal-title":"Am J Hum Genet"},{"key":"BF5201736_CR38","doi-asserted-by":"publisher","first-page":"889","DOI":"10.1086\/503875","volume":"78","author":"CG Woods","year":"2006","unstructured":"Woods CG, Cox J, Springell K et al: Quantification of homozygosity in consanguineous individuals with autosomal recessive disease. Am J Hum Genet 2006; 78: 889\u2013896.","journal-title":"Am J Hum Genet"}],"container-title":["European Journal of Human Genetics"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/www.nature.com\/articles\/5201736.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/www.nature.com\/articles\/5201736","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/www.nature.com\/articles\/5201736.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,5,18]],"date-time":"2023-05-18T01:37:34Z","timestamp":1684373854000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.nature.com\/articles\/5201736"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2006,11,15]]},"references-count":38,"journal-issue":{"issue":"2","published-print":{"date-parts":[[2007,2]]}},"alternative-id":["BF5201736"],"URL":"https:\/\/doi.org\/10.1038\/sj.ejhg.5201736","relation":{},"ISSN":["1018-4813","1476-5438"],"issn-type":[{"value":"1018-4813","type":"print"},{"value":"1476-5438","type":"electronic"}],"subject":[],"published":{"date-parts":[[2006,11,15]]}}}