{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,29]],"date-time":"2026-09-29T13:24:27Z","timestamp":1790688267227,"version":"4.1.0"},"reference-count":20,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2020,6,22]],"date-time":"2020-06-22T00:00:00Z","timestamp":1592784000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Clinical Genetics"],"published-print":{"date-parts":[[2020,8]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>\n                    Bardet\u2010Biedl syndrome (BBS) is a rare ciliopathy with variable retinal dystrophy, polydactyly, renal abnormalities, obesity, cognitive impairment, and hypogonadism. Biallelic pathogenic variants have been identified in 24 genes, leading to BBS in an autosomal recessive inheritance pattern. In this study, we investigated a cohort of 16 families (20 individuals) presenting with typical BBS originating from\n                    <jats:italic>La R\u00e9union<\/jats:italic>\n                    Island using sequencing (Sanger and high\u2010throughput methods) and SNP array. In eight families (12 individuals) we identified the same\n                    <jats:italic>ARL6\/BBS3<\/jats:italic>\n                    variation [c.535G\u2009&gt;\u2009A, p.(Asp179Asn)]. Bioinformatics and functional analyses revealed an effect of this variant on the splicing of\n                    <jats:italic>ARL6<\/jats:italic>\n                    \/\n                    <jats:italic>BBS3<\/jats:italic>\n                    . Owing to the relatively high frequency of this variant, a possible founder effect was suspected. Genotyping of six individuals revealed a common 3.8\u2010Mb haplotype and estimated the most recent common ancestor to about eight generations confirmed by the known genealogy. Knowledge of this founder effect modifies our diagnostic strategy and enables a personalized genetic counseling for patients from\n                    <jats:italic>La R\u00e9union<\/jats:italic>\n                    Island. Being the first description of BBS patients from\n                    <jats:italic>La R\u00e9union<\/jats:italic>\n                    Island, we could estimate its prevalence between ~1\/45000 and\u2009~\u20091\/66000 individuals.\n                  <\/jats:p>","DOI":"10.1111\/cge.13768","type":"journal-article","created":{"date-parts":[[2020,5,3]],"date-time":"2020-05-03T07:14:51Z","timestamp":1588490091000},"page":"166-171","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":17,"title":["High prevalence of\n                    <scp>Bardet\u2010Biedl<\/scp>\n                    syndrome in\n                    <i>La R\u00e9union<\/i>\n                    <scp>Island<\/scp>\n                    is due to a founder variant in\n                    <i>ARL6\/BBS3<\/i>"],"prefix":"10.1111","volume":"98","author":[{"given":"Aur\u00e9lie","family":"Gouronc","sequence":"first","affiliation":[{"name":"Laboratoires de Diagnostic G\u00e9n\u00e9tique H\u00f4pitaux Universitaires de Strasbourg  Strasbourg France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Vincent","family":"Zilliox","sequence":"additional","affiliation":[{"name":"Unit\u00e9 Fonctionnelle de Bioinformatique M\u00e9dicale appliqu\u00e9e au diagnostic (UF7363) H\u00f4pitaux Universitaires de Strasbourg  Strasbourg France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marie\u2010Line","family":"Jacquemont","sequence":"additional","affiliation":[{"name":"UF de G\u00e9n\u00e9tique M\u00e9dicale, GHSR CHU de La R\u00e9union  Saint Pierre La R\u00e9union France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Fran\u00e7oise","family":"Darcel","sequence":"additional","affiliation":[{"name":"Service des Maladies Neurologiques Rares GHSR, CHU de La R\u00e9union  Saint Pierre La R\u00e9union France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anne\u2010Sophie","family":"Leuvrey","sequence":"additional","affiliation":[{"name":"Laboratoires de Diagnostic G\u00e9n\u00e9tique H\u00f4pitaux Universitaires de Strasbourg  Strasbourg France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Elsa","family":"Nourisson","sequence":"additional","affiliation":[{"name":"Laboratoires de Diagnostic G\u00e9n\u00e9tique H\u00f4pitaux Universitaires de Strasbourg  Strasbourg France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Manuela","family":"Antin","sequence":"additional","affiliation":[{"name":"Laboratoires de Diagnostic G\u00e9n\u00e9tique H\u00f4pitaux Universitaires de Strasbourg  Strasbourg France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jean\u2010Luc","family":"Alessandri","sequence":"additional","affiliation":[{"name":"Pole Femme\u2010M\u00e8re\u2010Enfants, CH F\u00e9lix Guyon CHU de La R\u00e9union  Saint\u2010Denis La R\u00e9union France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"B\u00e9r\u00e9nice","family":"Doray","sequence":"additional","affiliation":[{"name":"Service de G\u00e9n\u00e9tique, CH F\u00e9lix Guyon CHU de La R\u00e9union  Saint\u2010Denis La R\u00e9union France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Paul","family":"Gueguen","sequence":"additional","affiliation":[{"name":"Service de G\u00e9n\u00e9tique, CH F\u00e9lix Guyon CHU de La R\u00e9union  Saint\u2010Denis La R\u00e9union France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Fr\u00e9d\u00e9rique","family":"Payet","sequence":"additional","affiliation":[{"name":"Service de G\u00e9n\u00e9tique, CH F\u00e9lix Guyon CHU de La R\u00e9union  Saint\u2010Denis La R\u00e9union France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hanitra","family":"Randrianaivo","sequence":"additional","affiliation":[{"name":"UF de G\u00e9n\u00e9tique M\u00e9dicale, GHSR CHU de La R\u00e9union  Saint Pierre La R\u00e9union France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Corinne","family":"Stoetzel","sequence":"additional","affiliation":[{"name":"Laboratoire de G\u00e9n\u00e9tique M\u00e9dicale INSERM, UMRS_1112, Institut de G\u00e9n\u00e9tique M\u00e9dicale d'Alsace (IGMA), Universit\u00e9 de Strasbourg Facult\u00e9 de m\u00e9decine de Strasbourg  Strasbourg France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sophie","family":"Scheidecker","sequence":"additional","affiliation":[{"name":"Laboratoires de Diagnostic G\u00e9n\u00e9tique H\u00f4pitaux Universitaires de Strasbourg  Strasbourg France"},{"name":"Laboratoire de G\u00e9n\u00e9tique M\u00e9dicale INSERM, UMRS_1112, Institut de G\u00e9n\u00e9tique M\u00e9dicale d'Alsace (IGMA), Universit\u00e9 de Strasbourg Facult\u00e9 de m\u00e9decine de Strasbourg  Strasbourg France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hugues","family":"Flodrops","sequence":"additional","affiliation":[{"name":"Service de P\u00e9diatrie, GHSR CHU de La R\u00e9union  Saint Pierre La R\u00e9union France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"H\u00e9l\u00e8ne","family":"Dollfus","sequence":"additional","affiliation":[{"name":"Laboratoire de G\u00e9n\u00e9tique M\u00e9dicale INSERM, UMRS_1112, Institut de G\u00e9n\u00e9tique M\u00e9dicale d'Alsace (IGMA), Universit\u00e9 de Strasbourg Facult\u00e9 de m\u00e9decine de Strasbourg  Strasbourg France"},{"name":"Centre de R\u00e9f\u00e9rence pour les affections rares en g\u00e9n\u00e9tique ophtalmologique, CARGO, Fili\u00e8re SENSGENE H\u00f4pitaux Universitaires de Strasbourg  Strasbourg France"},{"name":"Service de G\u00e9n\u00e9tique M\u00e9dicale Institut de G\u00e9n\u00e9tique M\u00e9dicale d'Alsace, H\u00f4pitaux Universitaires de Strasbourg  Strasbourg France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-7682-559X","authenticated-orcid":false,"given":"Jean","family":"Muller","sequence":"additional","affiliation":[{"name":"Laboratoires de Diagnostic G\u00e9n\u00e9tique H\u00f4pitaux Universitaires de Strasbourg  Strasbourg France"},{"name":"Unit\u00e9 Fonctionnelle de Bioinformatique M\u00e9dicale appliqu\u00e9e au diagnostic (UF7363) H\u00f4pitaux Universitaires de Strasbourg  Strasbourg France"},{"name":"Laboratoire de G\u00e9n\u00e9tique M\u00e9dicale INSERM, UMRS_1112, Institut de G\u00e9n\u00e9tique M\u00e9dicale d'Alsace (IGMA), Universit\u00e9 de Strasbourg Facult\u00e9 de m\u00e9decine de Strasbourg  Strasbourg France"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2020,6,22]]},"reference":[{"key":"e_1_2_8_2_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00467-010-1731-7"},{"key":"e_1_2_8_3_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.1989.tb03378.x"},{"key":"e_1_2_8_4_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmedgenet-2017-104758"},{"key":"e_1_2_8_5_1","doi-asserted-by":"publisher","DOI":"10.1111\/cge.13500"},{"key":"e_1_2_8_6_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41431-019-0347-z"},{"key":"e_1_2_8_7_1","doi-asserted-by":"publisher","DOI":"10.1111\/cge.12737"},{"key":"e_1_2_8_8_1","first-page":"2464","article-title":"Molecular characterization of retinitis pigmentosa in Saudi Arabia","volume":"15","author":"Aldahmesh MA","year":"2009","journal-title":"Mol 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