{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,29]],"date-time":"2026-09-29T09:35:24Z","timestamp":1790674524760,"version":"4.1.0"},"reference-count":29,"publisher":"BMJ","issue":"4","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J Med Genet"],"published-print":{"date-parts":[[2010,4]]},"abstract":"<jats:sec>\n                    <jats:title>Background<\/jats:title>\n                    <jats:p>\n                      Bardet\u2013Biedl syndrome (BBS) is primarily an autosomal recessive disorder characterised by the five cardinal features retinitis pigmentosa, postaxial polydactyly, mental retardation, obesity and hypogenitalism. In addition, renal cysts and other anomalies of the kidney and urinary tract can be present. To date, mutations in 12\n                      <jats:italic>BBS<\/jats:italic>\n                      genes as well as in\n                      <jats:italic>MKS1<\/jats:italic>\n                      and\n                      <jats:italic>CEP290<\/jats:italic>\n                      have been identified as causing BBS. The vast genetic heterogeneity of BBS renders molecular genetic diagnosis difficult in terms of the time and cost required to screen all 204 coding exons.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Method<\/jats:title>\n                    <jats:p>\n                      Here, the use of genome-wide homozygosity mapping as a tool to identify homozygous segments at known\n                      <jats:italic>BBS<\/jats:italic>\n                      loci, in BBS individuals from inbred and outbred background, is reported.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results<\/jats:title>\n                    <jats:p>\n                      In a worldwide cohort of 45 families, causative homozygous mutations in 20 families were identified via direct exon sequencing. Eleven of these mutations were novel, thereby increasing the number of known\n                      <jats:italic>BBS<\/jats:italic>\n                      mutations by 5% (11\/218).\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusions<\/jats:title>\n                    <jats:p>Thus, in the presence of extreme genetic locus heterogeneity, homozygosity mapping provides a valuable approach to the molecular genetic diagnosis of BBS and will facilitate the discovery of novel pathogenic mutations.<\/jats:p>\n                  <\/jats:sec>","DOI":"10.1136\/jmg.2009.071365","type":"journal-article","created":{"date-parts":[[2009,9,25]],"date-time":"2009-09-25T09:06:30Z","timestamp":1253869590000},"page":"262-267","source":"Crossref","is-referenced-by-count":67,"title":["Identification of 11 novel mutations in eight\n                    <i>BBS<\/i>\n                    genes by high-resolution homozygosity mapping"],"prefix":"10.1136","volume":"47","author":[{"given":"H M","family":"Harville","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"S","family":"Held","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"A","family":"Diaz-Font","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"E E","family":"Davis","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"B H","family":"Diplas","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"R A","family":"Lewis","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Z U","family":"Borochowitz","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"W","family":"Zhou","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"M","family":"Chaki","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"J","family":"MacDonald","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"H","family":"Kayserili","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"P L","family":"Beales","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"N","family":"Katsanis","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"E","family":"Otto","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"F","family":"Hildebrandt","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"239","published-online":{"date-parts":[[2009,9,24]]},"reference":[{"key":"2025101713380059000_47.4.262.1","first-page":"32","article-title":"Four cases of retinitis pigmentosa occurring in the same family accompanied by general imperfection of development","volume":"2","author":"Laurence","year":"1866","journal-title":"Ophthamol Rev"},{"key":"2025101713380059000_47.4.262.2","doi-asserted-by":"crossref","first-page":"387","DOI":"10.1002\/j.1550-8528.1995.tb00165.x","article-title":"On congenital obesity syndrome with polydactyly and retinitis pigmentosa (a contribution to the study of clinical forms of hypophyseal obesity). 1920","volume":"3","author":"Bardet","year":"1995","journal-title":"Obes Res"},{"key":"2025101713380059000_47.4.262.3","doi-asserted-by":"crossref","first-page":"404","DOI":"10.1002\/j.1550-8528.1995.tb00167.x","article-title":"A pair of siblings with adiposo-genital dystrophy, 1922","volume":"3","author":"Biedl","year":"1995","journal-title":"Obes Res"},{"key":"2025101713380059000_47.4.262.4","doi-asserted-by":"crossref","first-page":"437","DOI":"10.1136\/jmg.36.6.437","article-title":"New criteria for improved diagnosis of Bardet\u00e2\u0080\u0093Biedl syndrome: results of a population survey","volume":"36","author":"Beales","year":"1999","journal-title":"J Med Genet"},{"key":"2025101713380059000_47.4.262.5","doi-asserted-by":"crossref","first-page":"352","DOI":"10.1002\/ajmg.a.30406","article-title":"Clinical and genetic epidemiology of Bardet\u00e2\u0080\u0093Biedl syndrome in Newfoundland: a 22-year prospective, population-based, cohort study","volume":"132","author":"Moore","year":"2005","journal-title":"Am J Med Genet A"},{"key":"2025101713380059000_47.4.262.6","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1096-8628(20000103)90:1<80::AID-AJMG14>3.0.CO;2-E"},{"key":"2025101713380059000_47.4.262.7","doi-asserted-by":"publisher","DOI":"10.1038\/ng1418"},{"key":"2025101713380059000_47.4.262.8","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.0405496101"},{"key":"2025101713380059000_47.4.262.9","doi-asserted-by":"publisher","DOI":"10.1038\/ng1414"},{"key":"2025101713380059000_47.4.262.10","doi-asserted-by":"publisher","DOI":"10.1038\/ng1352"},{"key":"2025101713380059000_47.4.262.11","doi-asserted-by":"publisher","DOI":"10.1016\/S0092-8674(04)00450-7"},{"key":"2025101713380059000_47.4.262.12","doi-asserted-by":"publisher","DOI":"10.1242\/jcs.01676"},{"key":"2025101713380059000_47.4.262.13","doi-asserted-by":"publisher","DOI":"10.1101\/gad.1194004"},{"key":"2025101713380059000_47.4.262.14","doi-asserted-by":"publisher","DOI":"10.1086\/498323"},{"key":"2025101713380059000_47.4.262.15","doi-asserted-by":"publisher","DOI":"10.1038\/ng1771"},{"key":"2025101713380059000_47.4.262.16","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.0600158103"},{"key":"2025101713380059000_47.4.262.17","doi-asserted-by":"publisher","DOI":"10.1086\/510256"},{"key":"2025101713380059000_47.4.262.18","doi-asserted-by":"publisher","DOI":"10.1038\/ng.97"},{"key":"2025101713380059000_47.4.262.19","doi-asserted-by":"publisher","DOI":"10.1038\/nature02030"},{"key":"2025101713380059000_47.4.262.20","doi-asserted-by":"publisher","DOI":"10.1172\/JCI37041"},{"key":"2025101713380059000_47.4.262.21","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pgen.1000353"},{"key":"2025101713380059000_47.4.262.22","doi-asserted-by":"publisher","DOI":"10.1038\/75514"},{"key":"2025101713380059000_47.4.262.23","doi-asserted-by":"publisher","DOI":"10.1093\/bioinformatics\/bti264"},{"key":"2025101713380059000_47.4.262.24","doi-asserted-by":"publisher","DOI":"10.1002\/humu.20669"},{"key":"2025101713380059000_47.4.262.25","doi-asserted-by":"publisher","DOI":"10.1086\/341031"},{"key":"2025101713380059000_47.4.262.26","doi-asserted-by":"publisher","DOI":"10.1086\/346172"},{"key":"2025101713380059000_47.4.262.27","doi-asserted-by":"publisher","DOI":"10.1086\/428679"},{"key":"2025101713380059000_47.4.262.28","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddg188"},{"key":"2025101713380059000_47.4.262.29","doi-asserted-by":"publisher","DOI":"10.1038\/ng.366"}],"container-title":["Journal of Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/syndication.highwire.org\/content\/doi\/10.1136\/jmg.2009.071365","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,10,17]],"date-time":"2025-10-17T20:38:07Z","timestamp":1760733487000},"score":1,"resource":{"primary":{"URL":"https:\/\/jmg.bmj.com\/lookup\/doi\/10.1136\/jmg.2009.071365"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2009,9,24]]},"references-count":29,"journal-issue":{"issue":"4","published-online":{"date-parts":[[2010,4,22]]},"published-print":{"date-parts":[[2010,4]]}},"alternative-id":["10.1136\/jmg.2009.071365"],"URL":"https:\/\/doi.org\/10.1136\/jmg.2009.071365","relation":{},"ISSN":["0022-2593","1468-6244"],"issn-type":[{"value":"0022-2593","type":"print"},{"value":"1468-6244","type":"electronic"}],"subject":[],"published":{"date-parts":[[2009,9,24]]}}}