{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,2,27]],"date-time":"2026-02-27T02:41:12Z","timestamp":1772160072922,"version":"3.50.1"},"reference-count":12,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2023,2,8]],"date-time":"2023-02-08T00:00:00Z","timestamp":1675814400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/100012818","name":"Comunidad de Madrid","doi-asserted-by":"publisher","award":["PEJ\u20102020\u2010AI\/BMD\u201018610"],"award-info":[{"award-number":["PEJ\u20102020\u2010AI\/BMD\u201018610"]}],"id":[{"id":"10.13039\/100012818","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100012006","name":"FCR","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100012006","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100004587","name":"Instituto de Salud Carlos III","doi-asserted-by":"publisher","award":["PI18\/01098"],"award-info":[{"award-number":["PI18\/01098"]}],"id":[{"id":"10.13039\/501100004587","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100004587","name":"Instituto de Salud Carlos III","doi-asserted-by":"publisher","award":["PI20\/00851"],"award-info":[{"award-number":["PI20\/00851"]}],"id":[{"id":"10.13039\/501100004587","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Clinical Genetics"],"published-print":{"date-parts":[[2023,4]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>\n                    Joubert syndrome (JS) is a clinically and genetically heterogeneous genetic disorder. To date, 40 JS\u2010causing genes have been reported and\n                    <jats:italic>CPLANE1<\/jats:italic>\n                    is one of the most frequently mutated, with biallelic pathogenic missense and truncating variants explaining up to 14% of JS cases. We present a case of JS diagnosed after the identification of a novel biallelic intragenic duplication of exons 20\u201346 of\n                    <jats:italic>CPLANE1.<\/jats:italic>\n                    The quadruplication was identified by short\u2010read sequencing and copy number variant analysis and confirmed in tandem by long PCR with the breakpoints defined by a nanopore\u2010based long\u2010read sequencing approach. Based on the genetic findings and the clinical presentation of the patient, a brain MRI was ordered, evidencing the molar tooth sign, which confirmed the diagnosis of JS in the patient. This is, to the best of our knowledge, the first report of an intragenic duplication in this gene as the potential molecular mechanism of JS.\n                  <\/jats:p>","DOI":"10.1111\/cge.14306","type":"journal-article","created":{"date-parts":[[2023,1,31]],"date-time":"2023-01-31T08:44:24Z","timestamp":1675154664000},"page":"448-452","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":1,"title":["Biallelic intragenic tandem duplication of\n                    <i>CPLANE1<\/i>\n                    in Joubert syndrome: A case report"],"prefix":"10.1111","volume":"103","author":[{"given":"Francisco","family":"Mart\u00ednez\u2010Granero","sequence":"first","affiliation":[{"name":"Department of Genetics and Genomics IIS\u2013Fundaci\u00f3n Jim\u00e9nez D\u00edaz University Hospital  Madrid Spain"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Elena","family":"Mart\u00ednez\u2010Cayuelas","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Fundaci\u00f3n Jim\u00e9nez D\u00edaz University Hospital  Madrid Spain"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Cristina","family":"Rodilla","sequence":"additional","affiliation":[{"name":"Department of Genetics and Genomics IIS\u2013Fundaci\u00f3n Jim\u00e9nez D\u00edaz University Hospital  Madrid Spain"},{"name":"Center for Biomedical Network Research on Rare Diseases (CIBERER) ISCIII  Madrid Spain"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Gonzalo","family":"N\u00fa\u00f1ez\u2010Moreno","sequence":"additional","affiliation":[{"name":"Department of Genetics and Genomics IIS\u2013Fundaci\u00f3n Jim\u00e9nez D\u00edaz University Hospital  Madrid Spain"},{"name":"Center for Biomedical Network Research on Rare Diseases (CIBERER) ISCIII  Madrid Spain"},{"name":"Bioinformatics Unit IIS\u2013Fundaci\u00f3n Jim\u00e9nez D\u00edaz University Hospital  Madrid Spain"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Marta","family":"Rodr\u00edguez de Alba","sequence":"additional","affiliation":[{"name":"Department of Genetics and Genomics IIS\u2013Fundaci\u00f3n Jim\u00e9nez D\u00edaz University Hospital  Madrid Spain"},{"name":"Center for Biomedical Network Research on Rare Diseases (CIBERER) ISCIII  Madrid Spain"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Fiona","family":"Blanco\u2010Kelly","sequence":"additional","affiliation":[{"name":"Department of Genetics and Genomics IIS\u2013Fundaci\u00f3n Jim\u00e9nez D\u00edaz University Hospital  Madrid Spain"},{"name":"Center for Biomedical Network Research on Rare Diseases (CIBERER) ISCIII  Madrid Spain"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Raquel","family":"Romero","sequence":"additional","affiliation":[{"name":"Department of Genetics and Genomics IIS\u2013Fundaci\u00f3n Jim\u00e9nez D\u00edaz University Hospital  Madrid Spain"},{"name":"Center for Biomedical Network Research on Rare Diseases (CIBERER) ISCIII  Madrid Spain"},{"name":"Bioinformatics Unit IIS\u2013Fundaci\u00f3n Jim\u00e9nez D\u00edaz University Hospital  Madrid Spain"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Pablo","family":"Minguez","sequence":"additional","affiliation":[{"name":"Department of Genetics and Genomics IIS\u2013Fundaci\u00f3n Jim\u00e9nez D\u00edaz University Hospital  Madrid Spain"},{"name":"Center for Biomedical Network Research on Rare Diseases (CIBERER) ISCIII  Madrid Spain"},{"name":"Bioinformatics Unit IIS\u2013Fundaci\u00f3n Jim\u00e9nez D\u00edaz University Hospital  Madrid Spain"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Carmen","family":"Ayuso","sequence":"additional","affiliation":[{"name":"Department of Genetics and Genomics IIS\u2013Fundaci\u00f3n Jim\u00e9nez D\u00edaz University Hospital  Madrid Spain"},{"name":"Center for Biomedical Network Research on Rare Diseases (CIBERER) ISCIII  Madrid Spain"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Isabel","family":"Lorda\u2010Sanchez","sequence":"additional","affiliation":[{"name":"Department of Genetics and Genomics IIS\u2013Fundaci\u00f3n Jim\u00e9nez D\u00edaz University Hospital  Madrid Spain"},{"name":"Center for Biomedical Network Research on Rare Diseases (CIBERER) ISCIII  Madrid Spain"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Marta","family":"Corton","sequence":"additional","affiliation":[{"name":"Department of Genetics and Genomics IIS\u2013Fundaci\u00f3n Jim\u00e9nez D\u00edaz University Hospital  Madrid Spain"},{"name":"Center for Biomedical Network Research on Rare Diseases (CIBERER) ISCIII  Madrid Spain"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Berta","family":"Almoguera","sequence":"additional","affiliation":[{"name":"Department of Genetics and Genomics IIS\u2013Fundaci\u00f3n Jim\u00e9nez D\u00edaz University Hospital  Madrid Spain"},{"name":"Center for Biomedical Network Research on Rare Diseases (CIBERER) ISCIII  Madrid 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