{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,8]],"date-time":"2026-09-08T11:47:37Z","timestamp":1788868057548,"version":"build-2803163510"},"reference-count":15,"publisher":"S. Karger AG","issue":"1","license":[{"start":{"date-parts":[[2021,9,22]],"date-time":"2021-09-22T00:00:00Z","timestamp":1632268800000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/www.karger.com\/Services\/SiteLicenses"},{"start":{"date-parts":[[2021,9,22]],"date-time":"2021-09-22T00:00:00Z","timestamp":1632268800000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.karger.com\/Services\/SiteLicenses"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Mol Syndromol"],"published-print":{"date-parts":[[2022]]},"abstract":"<jats:p>Okur-Chung neurodevelopmental syndrome is a rare autosomal dominant disorder caused by pathogenic variants in &lt;i&gt;CSNK2A1&lt;\/i&gt;, which encodes the alpha 1 catalytic subunit of \u00adcasein kinase II. This syndrome is characterized by intellectual disability, developmental delay, and multisystemic \u00adabnormalities including those of the brain, extremities, and skin as well as cardiovascular, gastrointestinal, and immune systems. In this study, we describe a 5-year-old boy with a de novo novel nonsense variant in &lt;i&gt;CSNK2A1&lt;\/i&gt;, NM_001895.3:c.319C&amp;#x3e;T (p.Arg107*). He showed bilateral persistent hyperplastic primary vitreous with microphthalmia, lens dysplasia, and coloboma. Ocular manifestations are very rare in this syndrome, and this study expands the spectrum of the clinical presentations of this syndrome. <\/jats:p>","DOI":"10.1159\/000517977","type":"journal-article","created":{"date-parts":[[2021,9,22]],"date-time":"2021-09-22T21:07:44Z","timestamp":1632344864000},"page":"75-79","source":"Crossref","is-referenced-by-count":7,"title":["Persistent Hyperplastic Primary Vitreous with Microphthalmia and Coloboma in a Patient with Okur-Chung Neurodevelopmental Syndrome"],"prefix":"10.1159","volume":"13","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-6646-6263","authenticated-orcid":false,"given":"Hiroaki","family":"Murakami","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tomoko","family":"Uehara","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yumi","family":"Enomoto","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-8666-0776","authenticated-orcid":false,"given":"Naoto","family":"Nishimura","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tatsuro","family":"Kumaki","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yukiko","family":"Kuroda","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mizuki","family":"Asano","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Noriko","family":"Aida","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kenjiro","family":"Kosaki","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-6817-7748","authenticated-orcid":false,"given":"Kenji","family":"Kurosawa","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"127","published-online":{"date-parts":[[2021,9,22]]},"reference":[{"key":"ref1","doi-asserted-by":"publisher","DOI":"10.1038\/hgv.2018.11"},{"key":"ref2","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pone.0159508"},{"key":"ref3","doi-asserted-by":"publisher","DOI":"10.1111\/cge.13196"},{"key":"ref4","doi-asserted-by":"publisher","DOI":"10.1038\/s10038-018-0434-y"},{"key":"ref5","doi-asserted-by":"publisher","DOI":"10.1242\/dev.033548"},{"key":"ref6","doi-asserted-by":"publisher","DOI":"10.1016\/j.mod.2004.01.008"},{"key":"ref7","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.61405"},{"key":"ref8","doi-asserted-by":"publisher","DOI":"10.1124\/mol.114.097345"},{"key":"ref9","doi-asserted-by":"publisher","DOI":"10.1038\/s10038-018-0559-z"},{"key":"ref10","doi-asserted-by":"publisher","DOI":"10.1007\/s00439-016-1661-y"},{"key":"ref11","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.38610"},{"key":"ref12","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/dds197"},{"key":"ref13","doi-asserted-by":"publisher","DOI":"10.1111\/j.1442-9071.2009.02150.x"},{"key":"ref14","doi-asserted-by":"publisher","DOI":"10.1038\/jhg.2017.73"},{"key":"ref15","doi-asserted-by":"publisher","DOI":"10.1016\/j.ejmg.2017.12.004"}],"container-title":["Molecular Syndromology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.karger.com\/Article\/Pdf\/517977","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/www.karger.com\/Article\/Pdf\/517977","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,4,23]],"date-time":"2025-04-23T15:09:59Z","timestamp":1745420999000},"score":1,"resource":{"primary":{"URL":"https:\/\/karger.com\/article\/doi\/10.1159\/000517977"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2021,9,22]]},"references-count":15,"journal-issue":{"issue":"1","published-online":{"date-parts":[[2022,2,1]]},"published-print":{"date-parts":[[2022,3,8]]}},"URL":"https:\/\/doi.org\/10.1159\/000517977","archive":["Portico"],"relation":{},"ISSN":["1661-8769","1661-8777"],"issn-type":[{"value":"1661-8769","type":"print"},{"value":"1661-8777","type":"electronic"}],"subject":[],"published":{"date-parts":[[2021,9,22]]}}}