{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,7]],"date-time":"2026-10-07T00:35:53Z","timestamp":1791333353014,"version":"4.3.1"},"reference-count":13,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2014,2,18]],"date-time":"2014-02-18T00:00:00Z","timestamp":1392681600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/501100001411","name":"Indian council of Medical Research","doi-asserted-by":"crossref","award":["50\/8\/2008-BMS"],"award-info":[{"award-number":["50\/8\/2008-BMS"]}],"id":[{"id":"10.13039\/501100001411","id-type":"DOI","asserted-by":"crossref"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Clinical Genetics"],"published-print":{"date-parts":[[2015,2]]},"abstract":"<jats:p>Bardet\u2013Biedl syndrome (<jats:styled-content style=\"fixed-case\">BBS<\/jats:styled-content>), a ciliopathy disorder with pleiotropic effect manifests primarily as retinal degeneration along with renal insufficiency, polydactyly and obesity. In this study, we have performed homozygosity mapping using <jats:italic><jats:styled-content style=\"fixed-case\">NspI<\/jats:styled-content><\/jats:italic> 250K affymetrix gene chip followed by mutation screening of the candidate genes located in the homozygous blocks. These regions are prioritized based on the block length and candidature of the genes in <jats:styled-content style=\"fixed-case\">BBS<\/jats:styled-content> and other ciliopathies. Gene alterations in known <jats:styled-content style=\"fixed-case\">BBS<\/jats:styled-content> (22) and other ciliopathy genes such as <jats:italic><jats:styled-content style=\"fixed-case\">ALMS1<\/jats:styled-content> (2)<\/jats:italic> were seen in 24 of 30 families (80%). Mutations in <jats:italic>BBS<\/jats:italic>3 gene, inclusive of a novel recurrent mutation (p.I91T) accounted for 18% of the identified variations. Disease associated polymorphisms p.S70N (<jats:italic>BBS2<\/jats:italic>), rs1545 and rs1547 (<jats:italic>BBS6<\/jats:italic>) were also observed. This is the first study in Indian BBS patients and homozygosity mapping has proved to be an effective tool in prioritizing the candidate genes in consanguineous pedigrees. The study reveals a different mutation profile in the ciliopathy genes in Indian population and implication of novel loci\/genes in 20% of the study group.<\/jats:p>","DOI":"10.1111\/cge.12342","type":"journal-article","created":{"date-parts":[[2014,1,8]],"date-time":"2014-01-08T15:44:50Z","timestamp":1389195890000},"page":"161-166","source":"Crossref","is-referenced-by-count":38,"title":["Mutation spectrum in <scp>BBS<\/scp> genes guided by homozygosity mapping in an Indian cohort"],"prefix":"10.1111","volume":"87","author":[{"given":"C.","family":"Sathya Priya","sequence":"first","affiliation":[{"name":"SN ONGC Department of Genetics and Molecular Biology Vision Research Foundation Chennai Tamilnadu India"},{"name":"School of Chemical engineering and Biotechnology SASTRA University Thanjavur Tamilnadu India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"P.","family":"Sen","sequence":"additional","affiliation":[{"name":"Department of Vitreo Retina, Medical Research 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