{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,26]],"date-time":"2026-09-26T10:46:43Z","timestamp":1790419603486,"version":"4.1.0"},"reference-count":29,"publisher":"Wiley","issue":"6","license":[{"start":{"date-parts":[[2013,4,26]],"date-time":"2013-04-26T00:00:00Z","timestamp":1366934400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Clinical Genetics"],"published-print":{"date-parts":[[2013,12]]},"abstract":"<jats:p>Recently, pathogenic variants in the <jats:italic><jats:styled-content style=\"fixed-case\">MLL2<\/jats:styled-content><\/jats:italic> gene were identified as the most common cause of Kabuki (Niikawa\u2013Kuroki) syndrome (<jats:styled-content style=\"fixed-case\">MIM<\/jats:styled-content>#147920). To further elucidate the genotype\u2013phenotype correlation, we studied a large cohort of 86 clinically defined patients with Kabuki syndrome (KS) for mutations in <jats:italic><jats:styled-content style=\"fixed-case\">MLL2<\/jats:styled-content><\/jats:italic>. All patients were assessed using a standardized phenotype list and all were scored using a newly developed clinical score list for <jats:styled-content style=\"fixed-case\">KS<\/jats:styled-content> (<jats:styled-content style=\"fixed-case\">MLL2<\/jats:styled-content>\u2010Kabuki score 0\u201310). Sequencing of the full coding region and intron\u2013exon boundaries of <jats:italic><jats:styled-content style=\"fixed-case\">MLL2<\/jats:styled-content><\/jats:italic> identified a total of 45 likely pathogenic mutations (52%): 31 nonsense, 10 missense and four splice\u2010site mutations, 34 of which were novel. In five additional patients, novel, i.e. non\u2010<jats:styled-content style=\"fixed-case\">dbSNP132<\/jats:styled-content> variants of clinically unknown relevance, were identified. Patients with likely pathogenic nonsense or missense <jats:italic><jats:styled-content style=\"fixed-case\">MLL2<\/jats:styled-content><\/jats:italic> mutations were usually more severely affected (median \u2018<jats:styled-content style=\"fixed-case\">MLL2<\/jats:styled-content>\u2010Kabuki score\u2019 of 6) as compared to the patients without <jats:italic><jats:styled-content style=\"fixed-case\">MLL2<\/jats:styled-content><\/jats:italic> mutations (median \u2018<jats:styled-content style=\"fixed-case\">MLL2<\/jats:styled-content>\u2010Kabuki score\u2019 of 5), a significant difference (p\u2009&lt;\u20090.0014). Several typical facial features such as large dysplastic ears, arched eyebrows with sparse lateral third, blue sclerae, a flat nasal tip with a broad nasal root, and a thin upper and a full lower lip were observed more often in mutation positive patients.<\/jats:p>","DOI":"10.1111\/cge.12081","type":"journal-article","created":{"date-parts":[[2013,1,16]],"date-time":"2013-01-16T09:41:06Z","timestamp":1358329266000},"page":"539-545","source":"Crossref","is-referenced-by-count":96,"title":["<i><scp>MLL2<\/scp><\/i> mutation detection in 86 patients with Kabuki syndrome: a genotype\u2013phenotype study"],"prefix":"10.1111","volume":"84","author":[{"given":"P","family":"Makrythanasis","sequence":"first","affiliation":[{"name":"Departement of Genetic Medicine and Development University of Geneva  Geneva Switzerland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"BW","family":"van Bon","sequence":"additional","affiliation":[{"name":"Department of Human Genetics, Nijmegen 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