{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,5]],"date-time":"2026-10-05T08:18:59Z","timestamp":1791188339257,"version":"4.1.0"},"reference-count":15,"publisher":"Hindawi Limited","license":[{"start":{"date-parts":[[2015,1,1]],"date-time":"2015-01-01T00:00:00Z","timestamp":1420070400000},"content-version":"unspecified","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/3.0\/"}],"funder":[{"name":"Department of Endocrinology, Singapore General Hospital, Singapore"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["BioMed Research International"],"published-print":{"date-parts":[[2015]]},"abstract":"<jats:p>Bardet-Biedl syndrome (BBS) is a rare autosomal recessive disorder known to be caused by mutations in at least 19 BBS genes. We report the genetic analysis of a patient with indisputable features of BBS including cardinal features such as postaxial polydactyly, retinitis pigmentosa, obesity, and kidney failure. Taking advantage of next-generation sequencing technology, we applied whole exome sequencing (WES) with Sanger direct sequencing to the proband and her unaffected mother. A pair of heterozygous nonsense mutations in<jats:italic>BBS2<\/jats:italic>gene was identified in the proband, one being novel and the other recurrent. The novel mutation, p.Y644X, resides in exon 16 and was also found in the heterozygous state in the mother. This mutation is not currently found in the dsSNP and 1000 Genome SNP databases and is predicted to be disease causing by<jats:italic>in silico<\/jats:italic>analysis. This study highlights the potential for a rapid and precise detection of disease causing gene using WES in genetically heterogeneous disorders such as BBS.<\/jats:p>","DOI":"10.1155\/2015\/524754","type":"journal-article","created":{"date-parts":[[2015,5,11]],"date-time":"2015-05-11T21:06:49Z","timestamp":1431378409000},"page":"1-5","source":"Crossref","is-referenced-by-count":14,"title":["Whole Exome Sequencing Identifies a Novel and a Recurrent Mutation in<i>BBS2<\/i>Gene in a Family with Bardet-Biedl Syndrome"],"prefix":"10.1155","volume":"2015","author":[{"given":"Yong Mong","family":"Bee","sequence":"first","affiliation":[{"name":"Department of Endocrinology, Singapore General Hospital, Singapore 169856"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mayank","family":"Chawla","sequence":"additional","affiliation":[{"name":"Department of Internal Medicine, Singapore General Hospital, Singapore 169856"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yi","family":"Zhao","sequence":"additional","affiliation":[{"name":"Department of Clinical Research, Singapore General Hospital, Singapore 169856"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"98","reference":[{"issue":"6","key":"1","doi-asserted-by":"crossref","first-page":"437","DOI":"10.1136\/jmg.36.6.437","volume":"36","year":"1999","journal-title":"Journal of Medical Genetics"},{"key":"2","doi-asserted-by":"publisher","DOI":"10.1136\/jmedgenet-2013-101785"},{"key":"3","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddu044"},{"key":"4","doi-asserted-by":"publisher","DOI":"10.1136\/jmedgenet-2012-100875"},{"key":"5","doi-asserted-by":"publisher","DOI":"10.1159\/000357054"},{"key":"6","doi-asserted-by":"publisher","DOI":"10.1002\/humu.21480"},{"key":"7","doi-asserted-by":"publisher","DOI":"10.1016\/j.cell.2007.03.053"},{"key":"8","doi-asserted-by":"publisher","DOI":"10.1074\/jbc.m112.341487"},{"key":"9","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.1113220108"},{"key":"10","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.0910268107"},{"key":"11","doi-asserted-by":"publisher","DOI":"10.1002\/cbic.200300781"},{"key":"12","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pone.0090599"},{"key":"13","doi-asserted-by":"publisher","DOI":"10.2215\/cjn.03320410"},{"key":"14","doi-asserted-by":"publisher","DOI":"10.1016\/j.cmet.2012.08.005"},{"key":"15","doi-asserted-by":"publisher","DOI":"10.1136\/jmedgenet-2012-100737"}],"container-title":["BioMed Research International"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/downloads.hindawi.com\/journals\/bmri\/2015\/524754.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/downloads.hindawi.com\/journals\/bmri\/2015\/524754.xml","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/downloads.hindawi.com\/journals\/bmri\/2015\/524754.pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,8,10]],"date-time":"2023-08-10T11:38:08Z","timestamp":1691667488000},"score":1,"resource":{"primary":{"URL":"http:\/\/www.hindawi.com\/journals\/bmri\/2015\/524754\/"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2015]]},"references-count":15,"alternative-id":["524754","524754"],"URL":"https:\/\/doi.org\/10.1155\/2015\/524754","relation":{},"ISSN":["2314-6133","2314-6141"],"issn-type":[{"value":"2314-6133","type":"print"},{"value":"2314-6141","type":"electronic"}],"subject":[],"published":{"date-parts":[[2015]]}}}