{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,3,13]],"date-time":"2026-03-13T07:14:38Z","timestamp":1773386078345,"version":"3.50.1"},"reference-count":10,"publisher":"Springer Science and Business Media LLC","issue":"1","license":[{"start":{"date-parts":[[2026,3,2]],"date-time":"2026-03-02T00:00:00Z","timestamp":1772409600000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0"},{"start":{"date-parts":[[2026,3,13]],"date-time":"2026-03-13T00:00:00Z","timestamp":1773360000000},"content-version":"vor","delay-in-days":11,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0"}],"funder":[{"DOI":"10.13039\/100009619","name":"Japan Agency for Medical Research and Development","doi-asserted-by":"publisher","award":["JP24gn0110083"],"award-info":[{"award-number":["JP24gn0110083"]}],"id":[{"id":"10.13039\/100009619","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["Hum Genome Var"],"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>\n                    Microcephaly with or without chorioretinopathy, lymphedema or mental retardation is a rare KIF11-related disorder. Here we report the case of a patient with microcephaly, lymphedema, nystagmus and familial exudative vitreoretinopathy carrying a novel de novo\n                    <jats:italic>KIF11<\/jats:italic>\n                    nonsense variant (NM_004523.4:p.Glu123Ter), which is considered pathogenic. This case expands the phenotypic range of\n                    <jats:italic>KIF11<\/jats:italic>\n                    pathogenic variants and highlights the importance of early ophthalmological evaluation, genetic counseling and family assessment.\n                  <\/jats:p>","DOI":"10.1038\/s41439-026-00341-7","type":"journal-article","created":{"date-parts":[[2026,3,2]],"date-time":"2026-03-02T12:10:35Z","timestamp":1772453435000},"update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["Novel nonsense variant of KIF11 in a patient with MCLMR"],"prefix":"10.1038","volume":"13","author":[{"given":"Yuko","family":"Ozaki","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Kyoko","family":"Yokoi","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0009-0001-4779-4851","authenticated-orcid":false,"given":"Yasuhisa","family":"Nakamura","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Masanori","family":"Fujimoto","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Risako","family":"Ishioka","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Kozue","family":"Kasukabe","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Takenori","family":"Kato","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-6911-3351","authenticated-orcid":false,"given":"Shinji","family":"Saitoh","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"297","published-online":{"date-parts":[[2026,3,2]]},"reference":[{"key":"341_CR1","doi-asserted-by":"publisher","first-page":"881","DOI":"10.1038\/ejhg.2013.263","volume":"22","author":"GE Jones","year":"2014","unstructured":"Jones, G. E. et al. Microcephaly with or without chorioretinopathy, lymphoedema, or mental retardation (MCLMR): review of phenotype associated with KIF11 mutations. Eur. J. Hum. Genet. 22, 881\u2013887 (2014).","journal-title":"Eur. J. Hum. Genet."},{"key":"341_CR2","doi-asserted-by":"publisher","first-page":"2879","DOI":"10.1002\/ajmg.a.36707","volume":"164A","author":"GM Mirzaa","year":"2014","unstructured":"Mirzaa, G. M. et al. Congenital microcephaly and chorioretinopathy due to de novo heterozygous KIF11 mutations: five novel mutations and review of the literature. Am. J. Med. Genet. A 164A, 2879\u20132886 (2014).","journal-title":"Am. J. Med. Genet. A"},{"key":"341_CR3","doi-asserted-by":"publisher","DOI":"10.1016\/j.yexcr.2024.113975","volume":"436","author":"Y Zhou","year":"2024","unstructured":"Zhou, Y. et al. Loss-of-function of kinesin-5 KIF11 causes microcephaly, chorioretinopathy, and developmental disorders through chromosome instability and cell cycle arrest. Exp. Cell Res. 436, 113975 (2024).","journal-title":"Exp. Cell Res."},{"key":"341_CR4","doi-asserted-by":"publisher","first-page":"1393","DOI":"10.1001\/jamaophthalmol.2014.2814","volume":"132","author":"JM Robitaille","year":"2014","unstructured":"Robitaille, J. M. et al. Phenotypic overlap between familial exudative vitreoretinopathy and microcephaly, lymphedema, and chorioretinal dysplasia caused by KIF11 mutations. JAMA Ophthalmol. 132, 1393\u20131399 (2014).","journal-title":"JAMA Ophthalmol."},{"key":"341_CR5","doi-asserted-by":"publisher","first-page":"278","DOI":"10.1136\/bjophthalmol-2015-306878","volume":"100","author":"H Hu","year":"2016","unstructured":"Hu, H. et al. KIF11 mutations are a common cause of autosomal dominant familial exudative vitreoretinopathy. Br. J. Ophthalmol. 100, 278\u2013283 (2016).","journal-title":"Br. J. Ophthalmol."},{"key":"341_CR6","doi-asserted-by":"publisher","first-page":"405","DOI":"10.1038\/gim.2015.30","volume":"17","author":"S Richards","year":"2015","unstructured":"Richards, S. et al. Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. Genet. Med. 17, 405\u2013424 (2015).","journal-title":"Genet. Med."},{"key":"341_CR7","doi-asserted-by":"publisher","first-page":"356","DOI":"10.1016\/j.ajhg.2011.12.018","volume":"90","author":"P Ostergaard","year":"2012","unstructured":"Ostergaard, P. et al. Mutations in KIF11 cause autosomal-dominant microcephaly variably associated with congenital lymphedema and chorioretinopathy. Am. J. Hum. Genet. 90, 356\u2013362 (2012).","journal-title":"Am. J. Hum. Genet."},{"key":"341_CR8","doi-asserted-by":"publisher","first-page":"1819","DOI":"10.1038\/s41431-018-0243-y","volume":"26","author":"DW Karjosukarso","year":"2018","unstructured":"Karjosukarso, D. W., Cremers, F. P. M., van Nouhuys, C. E. & Collin, R. W. J. Detection and quantification of a KIF11 mosaicism in a subject presenting familial exudative vitreoretinopathy with microcephaly. Eur. J. Hum. Genet. 26, 1819\u20131823 (2018).","journal-title":"Eur. J. Hum. Genet."},{"key":"341_CR9","doi-asserted-by":"publisher","first-page":"71","DOI":"10.1297\/cpe.25.71","volume":"25","author":"T Isojima","year":"2016","unstructured":"Isojima, T., Kato, N., Ito, Y., Kanzaki, S. & Murata, M. Growth standard charts for Japanese children with mean and standard deviation (SD) values based on the year 2000 national survey. Clin. Pediatr. Endocrinol. 25, 71\u201376 (2016).","journal-title":"Clin. Pediatr. Endocrinol."},{"key":"341_CR10","unstructured":"Kato, N., Yokoyama, T. & Takimoto, H. Head Circumference Growth References for Japanese Children Report No.: H23-Nisedai-Shitei-005 (Ministry of Health, Labour and Welfare, Japan, 2012)."}],"container-title":["Human Genome Variation"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.nature.com\/articles\/s41439-026-00341-7","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/www.nature.com\/articles\/s41439-026-00341-7.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/www.nature.com\/articles\/s41439-026-00341-7.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,3,13]],"date-time":"2026-03-13T02:29:14Z","timestamp":1773368954000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.nature.com\/articles\/s41439-026-00341-7"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2026,3,2]]},"references-count":10,"journal-issue":{"issue":"1","published-online":{"date-parts":[[2026,12]]}},"alternative-id":["341"],"URL":"https:\/\/doi.org\/10.1038\/s41439-026-00341-7","relation":{},"ISSN":["2054-345X"],"issn-type":[{"value":"2054-345X","type":"electronic"}],"subject":[],"published":{"date-parts":[[2026,3,2]]},"assertion":[{"value":"16 December 2025","order":1,"name":"received","label":"Received","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"4 February 2026","order":2,"name":"revised","label":"Revised","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"5 February 2026","order":3,"name":"accepted","label":"Accepted","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"2 March 2026","order":4,"name":"first_online","label":"First Online","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"The authors declare no competing interests.","order":1,"name":"Ethics","group":{"name":"EthicsHeading","label":"Competing interests"}},{"value":"Written informed consent was obtained from the patient\u2019s parents to conduct this study.","order":2,"name":"Ethics","group":{"name":"EthicsHeading","label":"Compliance with ethical standards"}}],"article-number":"4"}}