{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,6]],"date-time":"2026-10-06T22:32:45Z","timestamp":1791325965024,"version":"4.3.1"},"reference-count":27,"publisher":"S. Karger AG","issue":"1","license":[{"start":{"date-parts":[[2010,1,1]],"date-time":"2010-01-01T00:00:00Z","timestamp":1262304000000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/www.karger.com\/Services\/SiteLicenses"},{"start":{"date-parts":[[2010,1,1]],"date-time":"2010-01-01T00:00:00Z","timestamp":1262304000000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.karger.com\/Services\/SiteLicenses"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Mol Syndromol"],"published-print":{"date-parts":[[2010]]},"abstract":"<jats:p>Bardet-Biedl syndrome (BBS) is an autosomal recessively inherited ciliopathy mainly characterized by rod-cone dystrophy, postaxial polydactyly, obesity, renal tract anomalies, and hypogonadism. To date, 14 &lt;i&gt;BBS&lt;\/i&gt; genes, &lt;i&gt;BBS1&lt;\/i&gt; to &lt;i&gt;BBS14&lt;\/i&gt;, have been identified, accounting for over 75% of mutations in BBS families. In this study, we present a consanguineous family from Pakistan with postaxial polydactyly and late-onset retinal dysfunction. Adult affected individuals did not show any renal or genital anomalies, obesity, mental retardation or learning difficulties and did thus not fulfill the proposed clinical diagnostic criteria for BBS. We mapped the disease in this family to the &lt;i&gt;BBS12&lt;\/i&gt; locus on chromosome 4q27 and identified the novel homozygous p.S701X nonsense mutation in &lt;i&gt;BBS12&lt;\/i&gt; in all three affected individuals of this family. We conclude that &lt;i&gt;BBS12&lt;\/i&gt; mutations might cause a very mild phenotype, which is clinically not diagnosed by the current diagnostic criteria for BBS. Consequently, we suggest the use of less strict diagnostic criteria in familial BBS families with mild phenotypic expression.<\/jats:p>","DOI":"10.1159\/000276763","type":"journal-article","created":{"date-parts":[[2010,2,12]],"date-time":"2010-02-12T07:50:32Z","timestamp":1265961032000},"page":"27-34","source":"Crossref","is-referenced-by-count":41,"title":["A Novel Familial &lt;i&gt;BBS12&lt;\/i&gt; Mutation Associated with a Mild Phenotype: Implications for Clinical and Molecular Diagnostic Strategies"],"prefix":"10.1159","volume":"1","author":[{"given":"B.","family":"Pawlik","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"A.","family":"Mir","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"H.","family":"Iqbal","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Y.","family":"Li","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"G.","family":"N\u00fcrnberg","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"C.","family":"Becker","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"R.","family":"Qamar","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"P.","family":"N\u00fcrnberg","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"B.","family":"Wollnik","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"127","published-online":{"date-parts":[[2010,1,15]]},"reference":[{"key":"ref1","doi-asserted-by":"publisher","DOI":"10.1038%2Fnrg910"},{"key":"ref2","doi-asserted-by":"publisher","DOI":"10.1086%2F368204"},{"key":"ref3","doi-asserted-by":"publisher","DOI":"10.1146%2Fannurev.genom.7.080505.115610"},{"key":"ref4","doi-asserted-by":"publisher","DOI":"10.1038%2Fnature04370"},{"key":"ref5","doi-asserted-by":"publisher","DOI":"10.1136%2Fjmg.34.2.92"},{"key":"ref6","doi-asserted-by":"publisher","DOI":"10.1006%2Fgeno.1997.4613"},{"key":"ref7","doi-asserted-by":"publisher","DOI":"10.1002%2Fajmg.1320590216"},{"key":"ref8","doi-asserted-by":"publisher","DOI":"10.1086%2F423903"},{"key":"ref9","doi-asserted-by":"publisher","DOI":"10.1073%2Fpnas.0600158103"},{"key":"ref10","doi-asserted-by":"publisher","DOI":"10.1038%2Fng1414"},{"key":"ref11","doi-asserted-by":"publisher","DOI":"10.1111%2Fj.1399-0004.1988.tb03414.x"},{"key":"ref12","doi-asserted-by":"publisher","DOI":"10.1111%2Fj.1399-0004.1989.tb03378.x"},{"key":"ref13","doi-asserted-by":"publisher","DOI":"10.1056%2FNEJM198910123211503"},{"key":"ref14","doi-asserted-by":"publisher","DOI":"10.1056%2FNEJM198809083191005"},{"key":"ref15","doi-asserted-by":"publisher","DOI":"10.1038%2F79201"},{"key":"ref16","doi-asserted-by":"publisher","DOI":"10.1126%2Fscience.1063525"},{"key":"ref17","doi-asserted-by":"publisher","DOI":"10.1093%2Fhmg%2F10.20.2293"},{"key":"ref18","doi-asserted-by":"publisher","DOI":"10.1016%2FS0092-8674%2804%2900450-7"},{"key":"ref19","doi-asserted-by":"publisher","DOI":"10.1016%2Fj.cub.2006.07.012"},{"key":"ref20","doi-asserted-by":"publisher","DOI":"10.1038%2F88925"},{"key":"ref21","doi-asserted-by":"publisher","DOI":"10.1086%2F498323"},{"key":"ref22","doi-asserted-by":"publisher","DOI":"10.1038%2Fng1644"},{"key":"ref23","doi-asserted-by":"publisher","DOI":"10.1126%2Fscience.1142358"},{"key":"ref24","doi-asserted-by":"publisher","DOI":"10.1038%2Fng1771"},{"key":"ref25","doi-asserted-by":"publisher","DOI":"10.1086%2F510256"},{"key":"ref26","doi-asserted-by":"publisher","DOI":"10.1007%2Fs00467-007-0435-0"},{"key":"ref27","doi-asserted-by":"publisher","DOI":"10.1172%2FJCI37041"}],"container-title":["Molecular Syndromology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.karger.com\/Article\/Pdf\/276763","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/www.karger.com\/Article\/Pdf\/276763","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,4,23]],"date-time":"2025-04-23T21:25:23Z","timestamp":1745443523000},"score":1,"resource":{"primary":{"URL":"https:\/\/karger.com\/article\/doi\/10.1159\/000276763"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2010]]},"references-count":27,"journal-issue":{"issue":"1","published-online":{"date-parts":[[2010,2,1]]},"published-print":{"date-parts":[[2010,2,22]]}},"URL":"https:\/\/doi.org\/10.1159\/000276763","archive":["Portico"],"relation":{},"ISSN":["1661-8769","1661-8777"],"issn-type":[{"value":"1661-8769","type":"print"},{"value":"1661-8777","type":"electronic"}],"subject":[],"published":{"date-parts":[[2010]]}}}