{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,15]],"date-time":"2026-09-15T22:56:33Z","timestamp":1789512993667,"version":"build-2803163510"},"reference-count":18,"publisher":"S. Karger AG","issue":"5","license":[{"start":{"date-parts":[[2018,1,1]],"date-time":"2018-01-01T00:00:00Z","timestamp":1514764800000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/www.karger.com\/Services\/SiteLicenses"},{"start":{"date-parts":[[2018,1,1]],"date-time":"2018-01-01T00:00:00Z","timestamp":1514764800000},"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":[[2018]]},"abstract":"<jats:p>Microcephaly with or without chorioretinopathy, lymphedema, or mental retardation (MCLMR; OMIM 152950) is a rare autosomal dominantly inherited syndrome. Mutations in the kinesin family member 11 (&lt;i&gt;KIF11&lt;\/i&gt;) gene have been associated with this condition. Here, we report a de novo novel heterozygous missense mutation in exon 12 of the &lt;i&gt;KIF11&lt;\/i&gt; gene [c.1402T&gt;G; p.(Leu468Val)] in a boy with 22q11.2 microdeletion syndrome. His major features were microcephaly, ventricular septal defect, congenital lymphedema of the feet, and distinct facial appearance including upslanting palpebral fissures, a broad nose with rounded tip, anteverted nares, long philtrum with a thin upper lip, pointed chin, and prominent ears. His right eye was enucleated due to subretinal hemorrhage and retinal detachment at age 3 months. Lacunae of chorioretinal atrophy and the pale optic disc were present in the left eye. He also had a de novo 1.6-Mb microdeletion in the Di George\/VCFS region of chromosome 22q11.2 in SNP array, which was confirmed by FISH analysis. In this study, for the first time, we describe the co-occurrence of a &lt;i&gt;KIF11&lt;\/i&gt; mutation and 22q11.2 deletion syndrome in a patient with MCLMR.<\/jats:p>","DOI":"10.1159\/000491568","type":"journal-article","created":{"date-parts":[[2018,7,19]],"date-time":"2018-07-19T21:01:34Z","timestamp":1532034094000},"page":"266-270","source":"Crossref","is-referenced-by-count":10,"title":["A Novel Mutation of KIF11 in a Child with 22q11.2 Deletion Syndrome Associated with MCLMR"],"prefix":"10.1159","volume":"9","author":[{"given":"Nilay","family":"G\u00fcne\u015f","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Emre","family":"Ta\u015fdemir","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Heather","family":"Jeffery","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"H\u00fcseyin","family":"Yetik","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Pia","family":"Ostergaard","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Beyhan","family":"T\u00fcys\u00fcz","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"127","published-online":{"date-parts":[[2018,7,20]]},"reference":[{"key":"ref1","doi-asserted-by":"publisher","DOI":"10.1111\/aos.12759"},{"key":"ref2","doi-asserted-by":"publisher","DOI":"10.1091\/mbc.E11-03-0211"},{"key":"ref3","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.32156"},{"key":"ref4","doi-asserted-by":"publisher","DOI":"10.1167\/iovs.17-21679"},{"key":"ref5","doi-asserted-by":"publisher","DOI":"10.18632\/oncotarget.1490"},{"key":"ref6","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320430623"},{"key":"ref7","doi-asserted-by":"publisher","DOI":"10.1016\/j.jaapos.2006.08.006"},{"key":"ref8","doi-asserted-by":"publisher","DOI":"10.1038\/ejhg.2013.263"},{"key":"ref9","doi-asserted-by":"publisher","DOI":"10.1038\/nprot.2009.86"},{"key":"ref10","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2011.12.018"},{"key":"ref11","doi-asserted-by":"publisher","DOI":"10.1056\/NEJMoa1516767"},{"key":"ref12","doi-asserted-by":"publisher","DOI":"10.1001\/jamaophthalmol.2014.2814"},{"key":"ref13","doi-asserted-by":"publisher","DOI":"10.1038\/nmeth0810-575"},{"key":"ref14","doi-asserted-by":"publisher","DOI":"10.1002\/ddrr.2"},{"key":"ref15","doi-asserted-by":"publisher","DOI":"10.1016\/j.ejmg.2018.02.006"},{"key":"ref16","doi-asserted-by":"publisher","DOI":"10.1038\/ncb1394"},{"key":"ref17","doi-asserted-by":"publisher","DOI":"10.1083\/jcb.201303163"},{"key":"ref18","doi-asserted-by":"publisher","DOI":"10.1001\/jama.2014.14601"}],"container-title":["Molecular Syndromology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.karger.com\/Article\/Pdf\/491568","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/www.karger.com\/Article\/Pdf\/491568","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,4,23]],"date-time":"2025-04-23T16:46:43Z","timestamp":1745426803000},"score":1,"resource":{"primary":{"URL":"https:\/\/karger.com\/article\/doi\/10.1159\/000491568"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2018]]},"references-count":18,"journal-issue":{"issue":"5","published-online":{"date-parts":[[2019,1,31]]},"published-print":{"date-parts":[[2018,11,8]]}},"URL":"https:\/\/doi.org\/10.1159\/000491568","archive":["Portico"],"relation":{},"ISSN":["1661-8769","1661-8777"],"issn-type":[{"value":"1661-8769","type":"print"},{"value":"1661-8777","type":"electronic"}],"subject":[],"published":{"date-parts":[[2018]]}}}