{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,29]],"date-time":"2026-09-29T14:42:12Z","timestamp":1790692932743,"version":"4.1.0"},"reference-count":23,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2020,11,14]],"date-time":"2020-11-14T00:00:00Z","timestamp":1605312000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/501100001665","name":"Agence Nationale de la Recherche","doi-asserted-by":"publisher","award":["Les Espoirs de l'Universit\u00e9 de Strasbourg 2018"],"award-info":[{"award-number":["Les Espoirs de l'Universit\u00e9 de Strasbourg 2018"]}],"id":[{"id":"10.13039\/501100001665","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100002915","name":"Fondation pour la Recherche M\u00e9dicale","doi-asserted-by":"publisher","award":["ECO20170637509"],"award-info":[{"award-number":["ECO20170637509"]}],"id":[{"id":"10.13039\/501100002915","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Clinical Genetics"],"published-print":{"date-parts":[[2021,2]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>\n                    Bardet\u2010Biedl syndrome (BBS) is a ciliopathy characterized by retinitis pigmentosa, obesity, polydactyly, cognitive impairment and renal failure. Pathogenic variants in 24 genes account for the molecular basis of &gt;80% of cases. Toward saturated discovery of the mutational basis of the disorder, we carefully explored our cohorts and identified a hominid\u2010specific SINE\u2010R\/VNTR\/\n                    <jats:italic>Alu<\/jats:italic>\n                    type F (SVA\u2010F) insertion in exon 13 of\n                    <jats:italic>BBS1<\/jats:italic>\n                    in eight families. In six families, the repeat insertion was found\n                    <jats:italic>in trans<\/jats:italic>\n                    with c.1169\u2009T\u2009&gt;\u2009G, p.Met390Arg and in two families the insertion was found in addition to other recessive BBS loci. Whole genome sequencing,\n                    <jats:italic>de novo<\/jats:italic>\n                    assembly and SNP array analysis were performed to characterize the genomic event. This insertion is extremely rare in the general population (found in 8 alleles of 8 BBS cases but not in &gt;10\u2009800 control individuals from gnomAD\u2010SV) and due to a founder effect. Its 2435\u2009bp sequence contains hallmarks of LINE1 mediated retrotransposition. Functional studies with patient\u2010derived cell lines confirmed that the\n                    <jats:italic>BBS1<\/jats:italic>\n                    SVA\u2010F is deleterious as evidenced by a significant depletion of both mRNA and protein levels. Such findings highlight the importance of dedicated bioinformatics pipelines to identify all types of variation.\n                  <\/jats:p>","DOI":"10.1111\/cge.13878","type":"journal-article","created":{"date-parts":[[2020,11,9]],"date-time":"2020-11-09T22:44:45Z","timestamp":1604961885000},"page":"318-324","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":23,"title":["A\n                    <scp>\n                      <i>BBS1<\/i>\n                      SVA\n                    <\/scp>\n                    F retrotransposon insertion is a frequent cause of\n                    <scp>Bardet\u2010Biedl<\/scp>\n                    syndrome"],"prefix":"10.1111","volume":"99","author":[{"given":"Clarisse","family":"Delvall\u00e9e","sequence":"first","affiliation":[{"name":"Laboratoire de G\u00e9n\u00e9tique M\u00e9dicale Institut de g\u00e9n\u00e9tique m\u00e9dicale d'Alsace IGMA, INSERM U1112, F\u00e9d\u00e9ration de M\u00e9decine Translationnelle de Strasbourg (FMTS), Universit\u00e9 de Strasbourg UMRS_1112  Strasbourg France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Samuel","family":"Nicaise","sequence":"additional","affiliation":[{"name":"Laboratoire de G\u00e9n\u00e9tique M\u00e9dicale Institut de g\u00e9n\u00e9tique m\u00e9dicale d'Alsace IGMA, INSERM U1112, F\u00e9d\u00e9ration de M\u00e9decine Translationnelle de Strasbourg (FMTS), Universit\u00e9 de Strasbourg UMRS_1112  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":"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":"Carmen C.","family":"Leitch","sequence":"additional","affiliation":[{"name":"Advanced Center for Translational and Genetic Medicine (ACT\u2010GeM) Stanley Manne Children's Research Institute, Ann and Robert H. Lurie Children's Hospital of Chicago  Chicago Illinois USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Georgios","family":"Kellaris","sequence":"additional","affiliation":[{"name":"Advanced Center for Translational and Genetic Medicine (ACT\u2010GeM) Stanley Manne Children's Research Institute, Ann and Robert H. Lurie Children's Hospital of Chicago  Chicago Illinois USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Corinne","family":"Stoetzel","sequence":"additional","affiliation":[{"name":"Laboratoire de G\u00e9n\u00e9tique M\u00e9dicale Institut de g\u00e9n\u00e9tique m\u00e9dicale d'Alsace IGMA, INSERM U1112, F\u00e9d\u00e9ration de M\u00e9decine Translationnelle de Strasbourg (FMTS), Universit\u00e9 de Strasbourg UMRS_1112  Strasbourg France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"V\u00e9ronique","family":"Geoffroy","sequence":"additional","affiliation":[{"name":"Laboratoire de G\u00e9n\u00e9tique M\u00e9dicale Institut de g\u00e9n\u00e9tique m\u00e9dicale d'Alsace IGMA, INSERM U1112, F\u00e9d\u00e9ration de M\u00e9decine Translationnelle de Strasbourg (FMTS), Universit\u00e9 de Strasbourg UMRS_1112  Strasbourg France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sophie","family":"Scheidecker","sequence":"additional","affiliation":[{"name":"Laboratoire de G\u00e9n\u00e9tique M\u00e9dicale Institut de g\u00e9n\u00e9tique m\u00e9dicale d'Alsace IGMA, INSERM U1112, F\u00e9d\u00e9ration de M\u00e9decine Translationnelle de Strasbourg (FMTS), Universit\u00e9 de Strasbourg UMRS_1112  Strasbourg France"},{"name":"Laboratoires de Diagnostic G\u00e9n\u00e9tique H\u00f4pitaux Universitaires de Strasbourg  Strasbourg France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Boris","family":"Keren","sequence":"additional","affiliation":[{"name":"Institut du Cerveau et de la Moelle \u00e9pini\u00e8re (ICM) Sorbonne Universit\u00e9  Paris France"},{"name":"AP\u2010HP H\u00f4pital de la Piti\u00e9\u2010Salp\u00eatri\u00e8re, D\u00e9partement de G\u00e9n\u00e9tique  Paris France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Christel","family":"Depienne","sequence":"additional","affiliation":[{"name":"Institut du Cerveau et de la Moelle \u00e9pini\u00e8re (ICM) Sorbonne Universit\u00e9  Paris France"},{"name":"Institute of Human Genetics University Hospital Essen, University of Duisburg\u2010Essen  Essen Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-4185-7409","authenticated-orcid":false,"given":"Joakim","family":"Klar","sequence":"additional","affiliation":[{"name":"Department of Immunology Genetics and Pathology, Science for Life Laboratory, Uppsala University  Uppsala Sweden"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Niklas","family":"Dahl","sequence":"additional","affiliation":[{"name":"Department of Immunology Genetics and Pathology, Science for Life Laboratory, Uppsala University  Uppsala Sweden"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jean\u2010Fran\u00e7ois","family":"Deleuze","sequence":"additional","affiliation":[{"name":"Centre National de Recherche en G\u00e9nomique Humaine (CNRGH) Institut de biologie Fran\u00e7ois Jacob  Evry France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Emmanuelle","family":"G\u00e9nin","sequence":"additional","affiliation":[{"name":"Inserm UMR1078 CHRU Brest, Univ Brest  Brest France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Richard","family":"Redon","sequence":"additional","affiliation":[{"name":"Universit\u00e9 de Nantes CNRS, INSERM, l'institut du thorax  Nantes France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Florence","family":"Demurger","sequence":"additional","affiliation":[{"name":"Service de G\u00e9n\u00e9tique M\u00e9dicale Centre Hospitalier Bretagne Atlantique  Vannes France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Koenraad","family":"Devriendt","sequence":"additional","affiliation":[{"name":"Center for Human Genetics University Hospital Leuven and KU Leuven  Leuven Belgium"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mich\u00e8le","family":"Mathieu\u2010Dramard","sequence":"additional","affiliation":[{"name":"Centre d'activit\u00e9 de g\u00e9n\u00e9tique clinique CLAD nord de France, CHU Amiens  Amiens France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Christine","family":"Poitou\u2010Bernert","sequence":"additional","affiliation":[{"name":"Assistance Publique H\u00f4pitaux de Paris Nutrition Department Piti\u00e9\u2010Salp\u00eatri\u00e8re Hospital; 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