{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,3]],"date-time":"2026-10-03T16:01:03Z","timestamp":1791043263914,"version":"4.1.0"},"reference-count":19,"publisher":"Wiley","issue":"5","license":[{"start":{"date-parts":[[2013,6,12]],"date-time":"2013-06-12T00:00:00Z","timestamp":1370995200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Clinical Genetics"],"published-print":{"date-parts":[[2014,5]]},"abstract":"<jats:p>Ciliopathies are heterogeneous disorders sharing different clinical signs due to a defect at the level of the primary cilia\/centrosome complex. Postaxial polydactyly is frequently reported in ciliopathies, especially in Bardet\u2013Biedl syndrome (<jats:styled-content style=\"fixed-case\">BBS<\/jats:styled-content>). Clinical features and genetic results observed in a pair of dizygotic twins with <jats:styled-content style=\"fixed-case\">BBS<\/jats:styled-content> are reported. The following manifestations were present: retinitis pigmentosa, bilateral insertional polydactyly, cognitive impairment and renal dysfunction. X\u2010rays of the hands confirmed the presence of a 4th mesoaxial extra\u2010digit with Y\u2010shaped metacarpal bones. The sequencing of <jats:italic><jats:styled-content style=\"fixed-case\">LZTFL1<\/jats:styled-content><\/jats:italic> identified a missense mutation (NM_020347.2: p.<jats:styled-content style=\"fixed-case\">Leu87Pro<\/jats:styled-content>; c.260T&gt;C) and a nonsense mutation (p.Glu260*; c.<jats:styled-content style=\"fixed-case\">778G<\/jats:styled-content>&gt;T), establishing a compound heterozygous status for the twins. A major decrease of <jats:styled-content style=\"fixed-case\">LZTFL1<\/jats:styled-content> transcript and protein was observed in the patient's fibroblasts. This is the second report of <jats:italic><jats:styled-content style=\"fixed-case\">LZTFL1<\/jats:styled-content><\/jats:italic> mutations in <jats:styled-content style=\"fixed-case\">BBS<\/jats:styled-content> patients confirming <jats:italic><jats:styled-content style=\"fixed-case\">LZTFL1<\/jats:styled-content><\/jats:italic> as a <jats:styled-content style=\"fixed-case\">BBS<\/jats:styled-content> gene. Interestingly, the only two families reported in literature thus far with <jats:italic><jats:styled-content style=\"fixed-case\">LZTFL1<\/jats:styled-content><\/jats:italic> mutations have in common mesoaxial polydactyly, a very uncommon feature for <jats:styled-content style=\"fixed-case\">BBS<\/jats:styled-content>. This special subtype of polydactyly in <jats:styled-content style=\"fixed-case\">BBS<\/jats:styled-content> patients is easily identified on clinical examination and prompts for priority sequencing of <jats:italic><jats:styled-content style=\"fixed-case\">LZTFL1<\/jats:styled-content><\/jats:italic> (<jats:italic><jats:styled-content style=\"fixed-case\">BBS17<\/jats:styled-content><\/jats:italic>).<\/jats:p>","DOI":"10.1111\/cge.12198","type":"journal-article","created":{"date-parts":[[2013,5,21]],"date-time":"2013-05-21T18:11:35Z","timestamp":1369159895000},"page":"476-481","source":"Crossref","is-referenced-by-count":41,"title":["Mesoaxial polydactyly is a major feature in Bardet\u2013Biedl syndrome patients with <i><scp>LZTFL1<\/scp><\/i> (<i><scp>BBS17<\/scp><\/i>) mutations"],"prefix":"10.1111","volume":"85","author":[{"given":"E.","family":"Schaefer","sequence":"first","affiliation":[{"name":"Laboratoire de G\u00e9n\u00e9tique M\u00e9dicale, INSERM U1112, Facult\u00e9 de M\u00e9decine de Strasbourg Universitaires de Strasbourg Strasbourg France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"J.","family":"Lauer","sequence":"additional","affiliation":[{"name":"Laboratoire de G\u00e9n\u00e9tique M\u00e9dicale, INSERM U1112, Facult\u00e9 de M\u00e9decine de Strasbourg Universitaires de Strasbourg Strasbourg France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"M.","family":"Durand","sequence":"additional","affiliation":[{"name":"Laboratoire de G\u00e9n\u00e9tique M\u00e9dicale, INSERM U1112, Facult\u00e9 de M\u00e9decine de Strasbourg Universitaires de Strasbourg Strasbourg France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"V.","family":"Pelletier","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"C.","family":"Obringer","sequence":"additional","affiliation":[{"name":"Laboratoire de G\u00e9n\u00e9tique M\u00e9dicale, INSERM U1112, Facult\u00e9 de M\u00e9decine de Strasbourg Universitaires de Strasbourg Strasbourg France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"A.","family":"Claussmann","sequence":"additional","affiliation":[{"name":"Laboratoire de G\u00e9n\u00e9tique M\u00e9dicale, INSERM U1112, Facult\u00e9 de M\u00e9decine de Strasbourg Universitaires de Strasbourg Strasbourg France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"J.\u2010J.","family":"Braun","sequence":"additional","affiliation":[{"name":"Service Oto\u2010Rhino\u2010Laryngologie et Chirurgie Cervico\u2010Faciale H\u00f4pitaux Universitaires de Strasbourg Strasbourg France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"C.","family":"Redin","sequence":"additional","affiliation":[{"name":"D\u00e9partement de Neurobiologie et G\u00e9n\u00e9tique, Laboratoire de Bioinformatique et G\u00e9nomique Int\u00e9gratives Institut de G\u00e9n\u00e9tique et de Biologie Mol\u00e9culaire et Cellulaire 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