{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,7]],"date-time":"2026-10-07T00:35:23Z","timestamp":1791333323560,"version":"4.3.1"},"reference-count":25,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2013,4,5]],"date-time":"2013-04-05T00:00:00Z","timestamp":1365120000000},"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":[[2014,2]]},"abstract":"Bardet\u2013Biedl syndrome (BBS<\/jats:styled-content>, OMIM<\/jats:styled-content> 209900) is a rare genetic disorder characterized by obesity, retinitis pigmentosa, post axial polydactyly, cognitive impairment, renal anomalies and hypogonadism. The aim of this study is to provide a comprehensive clinical and molecular analysis of a cohort of 11 Tunisian BBS<\/jats:styled-content> consanguineous families in order to give insight into clinical and genetic spectrum and the genotype\u2013phenotype correlations. Molecular analysis using combined sequence capture and high\u2010throughput sequencing of 30 ciliopathies genes revealed 11 mutations in 11 studied families. Five mutations were novel and six were previously described. Novel mutations included c.1110G<\/jats:styled-content>>A and c.39delA<\/jats:styled-content> (p.G13fs*41) in BBS1<\/jats:styled-content><\/jats:italic>, c.115+5G<\/jats:styled-content>>A in BBS2<\/jats:styled-content><\/jats:italic>, c.1272+1G<\/jats:styled-content>>A in BBS6<\/jats:styled-content><\/jats:italic>, c.1181_1182insGCATTTATACC in BBS10<\/jats:styled-content><\/jats:italic> (p.S396Lfs<\/jats:styled-content>*6). Described mutations included c.436C<\/jats:styled-content>>T (p.R146<\/jats:styled-content>*) and c.1473+4A<\/jats:styled-content>>G in BBS1<\/jats:styled-content><\/jats:italic>, c.565C<\/jats:styled-content>> (p.R189<\/jats:styled-content>*) in BBS2<\/jats:styled-content><\/jats:italic>, deletion of exons 4\u20136 in BBS4<\/jats:styled-content><\/jats:italic>, c.149T<\/jats:styled-content>>G (p.L50R<\/jats:styled-content>) in BBS5<\/jats:styled-content><\/jats:italic>, and c.459+1G<\/jats:styled-content>>A in BBS8<\/jats:styled-content><\/jats:italic>; most frequent mutations were described in BBS1<\/jats:styled-content><\/jats:italic> (4\/11, 37%) and BBS2<\/jats:styled-content><\/jats:italic> (2\/11, 18%) genes. No phenotype\u2013genotype correlation was evidenced. This data expands the mutations profile of BBS<\/jats:styled-content><\/jats:italic> genes in Tunisia and suggests a divergence of the genetic spectrum comparing Tunisian and other populations.<\/jats:p>","DOI":"10.1111\/cge.12129","type":"journal-article","created":{"date-parts":[[2013,2,21]],"date-time":"2013-02-21T23:11:30Z","timestamp":1361488290000},"page":"172-177","source":"Crossref","is-referenced-by-count":35,"title":["Clinical and genetic characterization of Bardet\u2013Biedl syndrome in Tunisia: defining a strategy for molecular diagnosis"],"prefix":"10.1111","volume":"85","author":[{"given":"O.","family":"M'hamdi","sequence":"first","affiliation":[{"name":"Facult\u00e9 de m\u00e9decine de Tunis Universit\u00e9 de Tunis El\u2010Manar Tunis Tunisie"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"C.","family":"Redin","sequence":"additional","affiliation":[{"name":"Institut de G\u00e9n\u00e9tique et de Biologie Mol\u00e9culaire et Cellulaire (IGBMC), CNRS UMR7104, INSERM U964 Universit\u00e9 de Strasbourg Illkirch France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"C.","family":"Stoetzel","sequence":"additional","affiliation":[{"name":"Facult\u00e9 de M\u00e9decine, Universit\u00e9 Louis Pasteur de Strasbourg Laboratoire de G\u00e9n\u00e9tique M\u00e9dicale EA3949 (Equipe AVENIR\u2010Inserm) Strasbourg France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"I.","family":"Ouertani","sequence":"additional","affiliation":[{"name":"Facult\u00e9 de m\u00e9decine de Tunis Universit\u00e9 de Tunis El\u2010Manar Tunis Tunisie"},{"name":"H\u00f4pital Charles Nicolle de Tunis Service des Maladies Cong\u00e9nitales et H\u00e9r\u00e9ditaires Tunis Tunisie"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"M.","family":"Chaabouni","sequence":"additional","affiliation":[{"name":"Facult\u00e9 de m\u00e9decine de Tunis Universit\u00e9 de Tunis El\u2010Manar Tunis Tunisie"},{"name":"H\u00f4pital Charles 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France"},{"name":"H\u00f4pitaux universitaires de Strasbourg Laboratoire de Diagnostic G\u00e9n\u00e9tique Strasbourg France"},{"name":"Chaire de G\u00e9n\u00e9tique Humaine Coll\u00e8ge de France Illkirch France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"H.","family":"Dollfus","sequence":"additional","affiliation":[{"name":"Facult\u00e9 de M\u00e9decine, Universit\u00e9 Louis Pasteur de Strasbourg Laboratoire de G\u00e9n\u00e9tique M\u00e9dicale EA3949 (Equipe AVENIR\u2010Inserm) Strasbourg France"},{"name":"H\u00f4pitaux Universitaires de Strasbourg Service de G\u00e9n\u00e9tique M\u00e9dicale\/Centre de R\u00e9f\u00e9rence pour les Affections G\u00e9n\u00e9tiques Ophtalmologiques Strasbourg France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"J.","family":"Muller","sequence":"additional","affiliation":[{"name":"Institut de G\u00e9n\u00e9tique et de Biologie Mol\u00e9culaire et Cellulaire (IGBMC), CNRS UMR7104, INSERM U964 Universit\u00e9 de 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