{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,25]],"date-time":"2026-09-25T21:41:39Z","timestamp":1790372499181,"version":"4.1.0"},"reference-count":20,"publisher":"S. Karger AG","issue":"2","license":[{"start":{"date-parts":[[2021,8,31]],"date-time":"2021-08-31T00:00:00Z","timestamp":1630368000000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/www.karger.com\/Services\/SiteLicenses"},{"start":{"date-parts":[[2021,8,31]],"date-time":"2021-08-31T00:00:00Z","timestamp":1630368000000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.karger.com\/Services\/SiteLicenses"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Dev Neurosci"],"published-print":{"date-parts":[[2022]]},"abstract":"<jats:p>Microcephaly with or without chorioretinopathy, lymphedema, or mental retardation (MCLMR) is an inherited disorder characterized by severe microcephaly and abnormal facial features. Kinesin family member 11 (&lt;i&gt;KIF11&lt;\/i&gt;) mutations have been reported closely related to microcephaly in different cases, while the pathogenicity was still unclear. Here, we report a de novo heterozygous mutation in exon 20 of the &lt;i&gt;KIF11&lt;\/i&gt; (c.2922G&amp;#x3e;T; p.Pro974=) from a microcephaly patient through whole-exome sequencing. Further studies identified that this variant affected the normal splicing of &lt;i&gt;KIF11&lt;\/i&gt; pre-mRNA, thus leading to the c.2815_2922 deletion of exon 20 through PBMC-derived pre-mRNA splicing assay and minigene experiment. Moreover, c.2815_2922 deletion would produce a shortened KIF11 protein, which may competitively bind to the normal KIF11 protein, suggesting a dominant negative effect mechanism in c.2922G&amp;#x3e;T mutation-induced MCLMR. <\/jats:p>","DOI":"10.1159\/000518923","type":"journal-article","created":{"date-parts":[[2021,8,31]],"date-time":"2021-08-31T21:00:32Z","timestamp":1630443632000},"page":"113-120","source":"Crossref","is-referenced-by-count":10,"title":["A Novel Variant of the &lt;b&gt;&lt;i&gt;KIF11&lt;\/i&gt;&lt;\/b&gt; Gene, c.2922G&amp;#x3e;T, Is Associated with Microcephaly by Affecting RNA Splicing"],"prefix":"10.1159","volume":"44","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-6251-3093","authenticated-orcid":false,"given":"Zhenglong","family":"Guo","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Xiaodong","family":"Huo","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Dong","family":"Wu","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-1997-9338","authenticated-orcid":false,"given":"Bingtao","family":"Hao","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-4904-6128","authenticated-orcid":false,"given":"Shixiu","family":"Liao","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"127","published-online":{"date-parts":[[2021,8,31]]},"reference":[{"key":"ref1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320430623"},{"key":"ref2","doi-asserted-by":"publisher","DOI":"10.1002\/(sici)1096-8628(19990917)86:3%3c215::aid-ajmg4%3e3.0.co;2-e"},{"key":"ref3","doi-asserted-by":"publisher","DOI":"10.1097\/00019605-200507000-00001"},{"key":"ref4","doi-asserted-by":"publisher","DOI":"10.1167\/iovs.17-21679"},{"key":"ref5","doi-asserted-by":"publisher","DOI":"10.1038\/ejhg.2013.263"},{"key":"ref6","doi-asserted-by":"publisher","DOI":"10.1038\/ncb1394"},{"key":"ref7","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2011.12.018"},{"key":"ref8","doi-asserted-by":"publisher","DOI":"10.1001\/jamaophthalmol.2014.2814"},{"key":"ref9","doi-asserted-by":"publisher","DOI":"10.1016\/j.cub.2004.10.029"},{"key":"ref10","doi-asserted-by":"publisher","DOI":"10.1016\/j.cub.2008.10.026"},{"key":"ref11","doi-asserted-by":"publisher","DOI":"10.1038\/359540a0"},{"key":"ref12","doi-asserted-by":"publisher","DOI":"10.1083\/jcb.144.1.125"},{"key":"ref13","doi-asserted-by":"publisher","DOI":"10.1002\/cm.10176"},{"key":"ref14","doi-asserted-by":"publisher","DOI":"10.1083\/jcb.200702074"},{"key":"ref15","doi-asserted-by":"publisher","DOI":"10.1016\/j.cub.2008.11.021"},{"key":"ref16","doi-asserted-by":"publisher","DOI":"10.1091\/mbc.E11-03-0211"},{"key":"ref17","doi-asserted-by":"publisher","DOI":"10.1242\/jcs.035360"},{"key":"ref18","doi-asserted-by":"publisher","DOI":"10.1016\/j.cub.2010.12.038"},{"key":"ref19","doi-asserted-by":"publisher","DOI":"10.1017\/s0012162200001419"},{"key":"ref20","doi-asserted-by":"publisher","DOI":"10.1111\/j.1469-8749.1991.tb14813.x"}],"container-title":["Developmental Neuroscience"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.karger.com\/Article\/Pdf\/518923","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/www.karger.com\/Article\/Pdf\/518923","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,4,23]],"date-time":"2025-04-23T15:20:35Z","timestamp":1745421635000},"score":1,"resource":{"primary":{"URL":"https:\/\/karger.com\/article\/doi\/10.1159\/000518923"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2021,8,31]]},"references-count":20,"journal-issue":{"issue":"2","published-online":{"date-parts":[[2022,4,1]]},"published-print":{"date-parts":[[2022,4,5]]}},"URL":"https:\/\/doi.org\/10.1159\/000518923","archive":["Portico"],"relation":{"is-supplemented-by":[{"id-type":"doi","id":"10.6084\/m9.figshare.16545903","asserted-by":"subject"}]},"ISSN":["0378-5866","1421-9859"],"issn-type":[{"value":"0378-5866","type":"print"},{"value":"1421-9859","type":"electronic"}],"subject":[],"published":{"date-parts":[[2021,8,31]]}}}