{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,1]],"date-time":"2026-06-01T15:23:22Z","timestamp":1780327402609,"version":"3.54.1"},"reference-count":19,"publisher":"Wiley","issue":"6","license":[{"start":{"date-parts":[[2022,1,7]],"date-time":"2022-01-07T00:00:00Z","timestamp":1641513600000},"content-version":"vor","delay-in-days":37,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/100000002","name":"National Institutes of Health","doi-asserted-by":"publisher","award":["NIH R01 MH101221 to E.E.E"],"award-info":[{"award-number":["NIH R01 MH101221 to E.E.E"]}],"id":[{"id":"10.13039\/100000002","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000051","name":"National Human Genome Research Institute","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100000051","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000050","name":"National Heart, Lung, and Blood Institute","doi-asserted-by":"publisher","award":["HG006493"],"award-info":[{"award-number":["HG006493"]}],"id":[{"id":"10.13039\/100000050","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100005771","name":"Dokuz Eyl\u00fcl \u00dcniversitesi","doi-asserted-by":"publisher","award":["2018.KB.SAG.116 to S.C"],"award-info":[{"award-number":["2018.KB.SAG.116 to S.C"]}],"id":[{"id":"10.13039\/501100005771","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Epileptic Disorders"],"published-print":{"date-parts":[[2021,12]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p><jats:italic>Objective<\/jats:italic>. Homozygous <jats:italic>OCLN<\/jats:italic> variants have been reported in patients with band\u2010like calcification with simplified gyration and polymicrogyria (BLC\u2010PMG) which is characterized by microcephaly, intracranial calcification and severe developmental delay. The <jats:italic>OCLN<\/jats:italic> gene encodes the integral membrane protein, occludin.<\/jats:p><jats:p><jats:italic>Methods<\/jats:italic>. Herein, we report three additional cases with homozygous <jats:italic>OCLN<\/jats:italic> variants that were identified via Trio\u2010WES in two consanguineous unrelated families.<\/jats:p><jats:p><jats:italic>Results<\/jats:italic>. We detected a previously reported frameshift variant in two cases in Family 1 and a novel missense variant in a case in Family 2. The potential pathogenicity of both variants in the index cases was investigated using <jats:italic>in silico<\/jats:italic> tools, and both variants were determined to be rare and predicted to be pathogenic. All of the presented cases exhibited clinical features in common with earlier reported patients, such as severe intellectual disability, microcephaly, polymicrogyria, epilepsy, hypotonia and severe developmental delay. On the other hand, in addition to the common phenotypic features, our two cases in Family 1 showed features similar to those previously reported in cases from two Turkish families carrying the same frameshift variant, such as renal failure.<\/jats:p><jats:p><jats:italic>Significance<\/jats:italic>. We herein expand the spectrum of <jats:italic>OCLN<\/jats:italic> gene variants with a description of an additional novel homozygous missense variant. The frameshift variant in Turkish cases may thus be a phenotype associated with renal failure in addition to the core phenotype associated with other <jats:italic>OCLN<\/jats:italic> gene variants, and such variants could be important for rapid molecular diagnosis and treatment. The frameshift variant in Turkish cases might also be investigated for both a potential founder effect and mutational hot spot.<\/jats:p>","DOI":"10.1684\/epd.2021.1349","type":"journal-article","created":{"date-parts":[[2021,12,22]],"date-time":"2021-12-22T06:52:20Z","timestamp":1640155940000},"page":"843-853","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":4,"title":["<i>OCLN<\/i> gene variants identified in three patients with severe neurodevelopmental disorder associated with epilepsy, intellectual disability and malformation of cortical development"],"prefix":"10.1002","volume":"23","author":[{"given":"Tulay Oncu","family":"Oner","sequence":"first","affiliation":[{"name":"Department of Medical Biology and Genetics, Faculty of Medicine Dokuz Eylul University  Izmir Turkey"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Aycan","family":"Unalp","sequence":"additional","affiliation":[{"name":"Department of Pediatric Neurology Dr. Behcet Uz Children's Hospital  Izmir Turkey"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Semra","family":"Hiz","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Division of Child Neurology, Faculty of Medicine Dokuz Eylul University  Izmir Turkey"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Erhan","family":"Bayram","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Division of Child Neurology, Faculty of Medicine Dokuz Eylul University  Izmir Turkey"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ismail","family":"Kaytan","sequence":"additional","affiliation":[{"name":"Department of Pediatric Neurology Dr. Behcet Uz Children's Hospital  Izmir Turkey"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sultan","family":"Cingoz","sequence":"additional","affiliation":[{"name":"Department of Medical Biology and Genetics, Faculty of Medicine Dokuz Eylul 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