{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,3,14]],"date-time":"2026-03-14T17:25:38Z","timestamp":1773509138520,"version":"3.50.1"},"reference-count":19,"publisher":"Scientific Scholar","issue":"2","content-domain":{"domain":["lww.com","ovid.com"],"crossmark-restriction":true},"short-container-title":[],"published-print":{"date-parts":[[2018,2]]},"abstract":"\n Background & objectives:<\/jats:title>\n Bardet\u2013Biedl syndrome (BBS) is a genetically heterogeneous autosomal recessive disorder characterized by multiple organ defects involving retina, kidney, liver and brain. Disease-causing mutations in BBS<\/jats:italic> genes narrowed down by homozygosity mapping in small consanguineous and non-consanguineous pedigrees were reported in 80 per cent of the study population. This study was aimed to screen these genes (BBS3<\/jats:italic>, BBS10<\/jats:italic>) and specific exons of BBS<\/jats:italic> genes (BBS1<\/jats:italic>, BBS5<\/jats:italic>, MKKS<\/jats:italic>, BBS9<\/jats:italic>, BBS11<\/jats:italic> and BBS12<\/jats:italic>) for recurrent mutations in a selected sample of BBS patients.<\/jats:p>\n <\/jats:sec>\n \n Methods:<\/jats:title>\n The recurrent mutations in BBS<\/jats:italic> genes were screened in the BBS affected individuals by PCR based direct sequencing. The pathogenicity of the observed mutations were confirmed by co-segregation analysis, screening of healthy unrelated controls and in silico<\/jats:italic> analysis.<\/jats:p>\n <\/jats:sec>\n \n Results:<\/jats:title>\n In the 64 BBS patients (44 males, 20 females) were studied, mutations were predominant in BBS10<\/jats:italic> and ARL6<\/jats:italic> genes; the c.272T>C; p.(I91T) mutation in ARL6<\/jats:italic> gene was a recurrent mutation. One novel non-sense mutation c.425T>G; p(L142*<\/jats:sup>) was obtained in BBS5<\/jats:italic> gene (family BSI-31).<\/jats:p>\n <\/jats:sec>\n \n Interpretation & conclusions:<\/jats:title>\n \n BBS10<\/jats:italic> gene mutations clustered in exon 2 of the gene suggesting the exon as a probable hotspot for mutations in Indian population. A cost- and time-effective strategy for the molecular diagnosis of BBS was designed based on these results.<\/jats:p>\n <\/jats:sec>","DOI":"10.4103\/ijmr.ijmr_1822_15","type":"journal-article","created":{"date-parts":[[2018,5,25]],"date-time":"2018-05-25T08:59:35Z","timestamp":1527238775000},"page":"177-182","update-policy":"https:\/\/doi.org\/10.1097\/lww.0000000000001000","source":"Crossref","is-referenced-by-count":19,"title":["Screening for mutation hotspots in Bardet\u2013Biedl syndrome patients from India"],"prefix":"10.25259","volume":"147","author":[{"given":"Sathya Priya","family":"Chandrasekar","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sheela","family":"Namboothiri","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Parveen","family":"Sen","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sripriya","family":"Sarangapani","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"10894","reference":[{"key":"R1-9-20241212","doi-asserted-by":"crossref","first-page":"437","DOI":"10.1136\/jmg.36.6.437","article-title":"New criteria for improved diagnosis of Bardet-Biedl syndrome: Results of a population survey","volume":"36","author":"Beales","year":"1999","journal-title":"J Med Genet"},{"key":"R2-9-20241212","doi-asserted-by":"crossref","first-page":"8","DOI":"10.1038\/ejhg.2012.115","article-title":"Bardet-Biedl syndrome","volume":"21","author":"Forsythe","year":"2013","journal-title":"Eur J Hum Genet"},{"key":"R3-9-20241212","doi-asserted-by":"crossref","first-page":"368","DOI":"10.1038\/jhg.2014.28","article-title":"Mutation profile of BBS genes in Iranian patients with Bardet-Biedl syndrome: Genetic characterization and report of nine novel mutations in five BBS genes","volume":"59","author":"Fattahi","year":"2014","journal-title":"J Hum Genet"},{"key":"R4-9-20241212","doi-asserted-by":"crossref","first-page":"447","DOI":"10.1038\/jhg.2015.162","article-title":"Identification of a novel mutation confirms the implication of IFT172 (BBS20) in Bardet-Biedl syndrome","volume":"61","author":"Schaefer","year":"2016","journal-title":"J Hum Genet"},{"key":"R5-9-20241212","doi-asserted-by":"crossref","first-page":"2283","DOI":"10.1093\/hmg\/ddw096","article-title":"Mutations in C8ORF37 cause Bardet Biedl syndrome (BBS21)","volume":"25","author":"Heon","year":"2016","journal-title":"Hum Mol Genet"},{"key":"R6-9-20241212","doi-asserted-by":"crossref","first-page":"51","DOI":"10.1159\/000357054","article-title":"Update on the genetics of Bardet-Biedl syndrome","volume":"5","author":"M\u2019hamdi","year":"2014","journal-title":"Mol Syndromol"},{"key":"R7-9-20241212","doi-asserted-by":"crossref","first-page":"428","DOI":"10.1172\/JCI37041","article-title":"Mechanistic insights into Bardet-Biedl syndrome, a model ciliopathy","volume":"119","author":"Zaghloul","year":"2009","journal-title":"J Clin Invest"},{"key":"R8-9-20241212","doi-asserted-by":"crossref","first-page":"181","DOI":"10.3109\/13816810.2011.567319","article-title":"BBS mutational analysis: A strategic approach","volume":"32","author":"Billingsley","year":"2011","journal-title":"Ophthalmic Genet"},{"key":"R9-9-20241212","doi-asserted-by":"crossref","first-page":"236","DOI":"10.1136\/jmg.2009.070755","article-title":"Clinical and molecular characterisation of Bardet-Biedl syndrome in consanguineous populations: The power of homozygosity mapping","volume":"47","author":"Abu Safieh","year":"2010","journal-title":"J Med Genet"},{"key":"R10-9-20241212","doi-asserted-by":"crossref","first-page":"479","DOI":"10.1016\/0022-510X(69)90091-4","article-title":"The syndrome of laurence-moon-Bardet-Biedl and allied diseases in Switzerland. 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