{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,29]],"date-time":"2025-10-29T06:16:20Z","timestamp":1761718580480,"version":"3.37.3"},"reference-count":9,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2017,8,3]],"date-time":"2017-08-03T00:00:00Z","timestamp":1501718400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"name":"Great Ormond Street Hospital Children's Charity","award":["V1212"],"award-info":[{"award-number":["V1212"]}]},{"name":"National Research Agency (France) (Investments for the Future)","award":["ANR-10-IAHU-01"],"award-info":[{"award-number":["ANR-10-IAHU-01"]}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Clinical Genetics"],"published-print":{"date-parts":[[2018,2]]},"abstract":"Occludin (OCLN<\/jats:styled-content><\/jats:italic>) is an important component of the tight junction complex, providing apical intercellular connections between adjacent cells in endothelial and epithelial tissue. In 2010 O'Driscoll et al reported mutations in OCLN<\/jats:styled-content><\/jats:italic> to cause band\u2010like calcification with simplified gyration and polymicrogyria (BLC\u2010PMG<\/jats:styled-content>). BLC\u2010PMG<\/jats:styled-content> is a rare autosomal recessive syndrome, characterized by early onset seizures, progressive microcephaly, severe developmental delay and deep cortical gray matter and basal ganglia calcification with symmetrical, predominantly fronto\u2010parietal, polymicrogyria. Here we report 4 additional cases of BLC\u2010PMG<\/jats:styled-content> with novel OCLN<\/jats:styled-content><\/jats:italic> mutations, and provide a summary of the published mutational spectrum. More generally, we describe a comprehensive molecular screening strategy taking into account the technical challenges associated with the genetic architecture of OCLN<\/jats:styled-content><\/jats:italic>, which include the presence of a pseudo\u2010gene and copy number variants.<\/jats:p>","DOI":"10.1111\/cge.13025","type":"journal-article","created":{"date-parts":[[2017,4,7]],"date-time":"2017-04-07T08:45:06Z","timestamp":1491554706000},"page":"228-234","source":"Crossref","is-referenced-by-count":11,"title":["Comprehensive molecular screening strategy of OCLN<\/scp><\/i> in band\u2010like calcification with simplified gyration and polymicrogyria"],"prefix":"10.1111","volume":"93","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-3498-869X","authenticated-orcid":false,"given":"E.M.","family":"Jenkinson","sequence":"first","affiliation":[{"name":"Faculty of Biology, Medicine and Health, School of Biological Sciences, Division of Evolution and Genomic Sciences University of Manchester Manchester UK"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"J.H.","family":"Livingston","sequence":"additional","affiliation":[{"name":"Department of Paediatric Neurology Leeds Teaching Hospitals NHS Trust Leeds UK"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"M.C.","family":"O'Driscoll","sequence":"additional","affiliation":[{"name":"West Midlands Regional Clinical Genetics Service and Birmingham Health Partners Birmingham Women's Hospital NHS Foundation Trust Birmingham UK"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"I.","family":"Desguerre","sequence":"additional","affiliation":[{"name":"Department of Paediatric Neurology Paris Descartes University, Sorbonne\u2010Paris\u2010Cit\u00e9, H\u00f4pital Necker Enfants Malades, Assistance Publique\u2010H\u00f4pitaux de Paris Paris France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"R.","family":"Nabbout","sequence":"additional","affiliation":[{"name":"Department of Paediatric Neurology Paris Descartes University, Sorbonne\u2010Paris\u2010Cit\u00e9, H\u00f4pital Necker Enfants Malades, Assistance Publique\u2010H\u00f4pitaux de Paris Paris France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"N.","family":"Boddaert","sequence":"additional","affiliation":[{"name":"Department of Pediatric Radiology, H\u00f4pital Necker Enfants Malades, AP\u2010HP, PRES Sorbonne Paris Cit\u00e9, INSERM U1000 and UMR 1163, Institut Imagine University Ren\u00e9 Descartes Paris France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"G.","family":"Soares","sequence":"additional","affiliation":[{"name":"Medical Genetics Porto Hospital Center Porto Portugal"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"M.","family":"Gon\u00e7alves da Rocha","sequence":"additional","affiliation":[{"name":"Centro Gen\u00e9tica M\u00e9dica Porto Portugal"},{"name":"Medical Genetics Unit Hospital de Braga Braga Portugal"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"S.","family":"D'Arrigo","sequence":"additional","affiliation":[{"name":"Development Neurology Department Fondazione IRCCS Istituto Neurologico \u201cC. Besta,\u201d Milan Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"G.I.","family":"Rice","sequence":"additional","affiliation":[{"name":"Faculty of Biology, Medicine and Health, School of Biological Sciences, Division of Evolution and Genomic Sciences University of Manchester Manchester UK"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Y.J.","family":"Crow","sequence":"additional","affiliation":[{"name":"Faculty of Biology, Medicine and Health, School of Biological Sciences, Division of Evolution and Genomic Sciences University of Manchester Manchester UK"},{"name":"Laboratory of Neurogenetics and Neuroinflammation INSERM UMR 1163 Paris France"},{"name":"Institut Imagine, H\u00f4pital Necker Enfants Malades, Assistance Publique\u2010H\u00f4pitaux de Paris Paris Descartes University, Sorbonne\u2010Paris\u2010Cit\u00e9 Paris France"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2017,8,3]]},"reference":[{"key":"e_1_2_6_2_1","doi-asserted-by":"publisher","DOI":"10.1083\/jcb.123.6.1777"},{"key":"e_1_2_6_3_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2010.07.012"},{"key":"e_1_2_6_4_1","doi-asserted-by":"publisher","DOI":"10.1101\/gr.490303"},{"key":"e_1_2_6_5_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2011.02.004"},{"key":"e_1_2_6_6_1","doi-asserted-by":"publisher","DOI":"10.1128\/JVI.00196-10"},{"key":"e_1_2_6_7_1","doi-asserted-by":"publisher","DOI":"10.1093\/nar\/gks596"},{"key":"e_1_2_6_8_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00439-013-1327-y"},{"key":"e_1_2_6_9_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.36485"},{"key":"e_1_2_6_10_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ejmg.2015.11.014"}],"container-title":["Clinical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1111%2Fcge.13025","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/cge.13025","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,9,28]],"date-time":"2023-09-28T07:24:14Z","timestamp":1695885854000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1111\/cge.13025"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2017,8,3]]},"references-count":9,"journal-issue":{"issue":"2","published-print":{"date-parts":[[2018,2]]}},"alternative-id":["10.1111\/cge.13025"],"URL":"https:\/\/doi.org\/10.1111\/cge.13025","archive":["Portico"],"relation":{},"ISSN":["0009-9163","1399-0004"],"issn-type":[{"type":"print","value":"0009-9163"},{"type":"electronic","value":"1399-0004"}],"subject":[],"published":{"date-parts":[[2017,8,3]]}}}