{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,28]],"date-time":"2026-10-28T00:14:47Z","timestamp":1793146487550,"version":"4.5.0"},"reference-count":9,"publisher":"Wiley","issue":"5","license":[{"start":{"date-parts":[[2012,9,18]],"date-time":"2012-09-18T00:00:00Z","timestamp":1347926400000},"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":[[2013,5]]},"abstract":"Kabuki syndrome (KS<\/jats:styled-content>) is a rare multi\u2010system disorder that can result in a variety of congenital malformations, typical dysmorphism and variable learning disability. It is caused by MLL2<\/jats:styled-content><\/jats:italic> point mutations in the majority of the cases and, rarely by deletions involving KDM6A<\/jats:styled-content><\/jats:italic>. Nearly one third of cases remain unsolved. Here, we expand the known genetic basis of KS<\/jats:styled-content> by presenting five typical patients with the condition, all of whom have novel MLL2<\/jats:styled-content><\/jats:italic> mutation types\u2013 two patients with mosaic small deletions, one with a mosaic whole\u2010gene deletion, one with a multi\u2010exon deletion and one with an intragenic multi\u2010exon duplication. We recommend MLL2<\/jats:styled-content><\/jats:italic> dosage studies for all patients with typical KS<\/jats:styled-content>, where traditional Sanger sequencing fails to identify mutations. The prevalence of such MLL2<\/jats:styled-content><\/jats:italic> mutations in KS<\/jats:styled-content> may be comparable with deletions involving KDM6A<\/jats:styled-content><\/jats:italic>. These findings may be helpful in understanding the mutational mechanism of MLL2<\/jats:styled-content><\/jats:italic> and the disease mechanism of KS<\/jats:styled-content>.<\/jats:p>","DOI":"10.1111\/j.1399-0004.2012.01955.x","type":"journal-article","created":{"date-parts":[[2012,8,17]],"date-time":"2012-08-17T16:03:17Z","timestamp":1345219397000},"page":"467-471","source":"Crossref","is-referenced-by-count":43,"title":["MLL2<\/scp><\/i> mosaic mutations and intragenic deletion\u2013duplications in patients with Kabuki syndrome"],"prefix":"10.1111","volume":"83","author":[{"given":"S","family":"Banka","sequence":"first","affiliation":[{"name":"Department of Genetic Medicine, St Mary's Hospital, Manchester Academic Health Sciences Centre (MAHSC) University of Manchester Manchester UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"E","family":"Howard","sequence":"additional","affiliation":[{"name":"Department of Genetic Medicine, St Mary's Hospital, Manchester Academic Health Sciences Centre (MAHSC) University of Manchester Manchester UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"S","family":"Bunstone","sequence":"additional","affiliation":[{"name":"Department of Genetic Medicine, St Mary's Hospital, Manchester Academic Health Sciences Centre (MAHSC) University of Manchester Manchester UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"KE","family":"Chandler","sequence":"additional","affiliation":[{"name":"Department of Genetic Medicine, St Mary's Hospital, Manchester Academic Health Sciences Centre (MAHSC) University of Manchester Manchester UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"B","family":"Kerr","sequence":"additional","affiliation":[{"name":"Department of Genetic Medicine, St Mary's Hospital, Manchester Academic Health Sciences Centre (MAHSC) University of Manchester Manchester UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"K","family":"Lachlan","sequence":"additional","affiliation":[{"name":"Wessex Clinical Genetics Service, University Hospital Southampton NHS Trust and Human Genetics and Genomic Medicine, Faculty of Medicine University of Southampton Southampton UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"S","family":"McKee","sequence":"additional","affiliation":[{"name":"Northern Ireland Regional Genetics Service Belfast City Hospital Belfast UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"SG","family":"Mehta","sequence":"additional","affiliation":[{"name":"Department of Clinical Genetics, East Anglian Medical Genetics Service Addenbrooke's Hospital Cambridge UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"ALT","family":"Tavares","sequence":"additional","affiliation":[{"name":"Department of Clinical Genetics, East Anglian Medical Genetics Service Addenbrooke's Hospital Cambridge UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"J","family":"Tolmie","sequence":"additional","affiliation":[{"name":"Clinical Genetics Department Yorkhill Hospitals Glasgow UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"D","family":"Donnai","sequence":"additional","affiliation":[{"name":"Department of Genetic Medicine, St Mary's Hospital, Manchester Academic Health Sciences Centre (MAHSC) University of Manchester Manchester UK"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2012,9,18]]},"reference":[{"key":"e_1_2_5_2_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng.646"},{"key":"e_1_2_5_3_1","doi-asserted-by":"publisher","DOI":"10.1038\/ejhg.2011.220"},{"key":"e_1_2_5_4_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.34074"},{"key":"e_1_2_5_5_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.21416"},{"key":"e_1_2_5_6_1","doi-asserted-by":"publisher","DOI":"10.1186\/1750-1172-6-38"},{"key":"e_1_2_5_7_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00439-011-1004-y"},{"key":"e_1_2_5_8_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2011.11.021"},{"key":"e_1_2_5_9_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.40.10.721"},{"key":"e_1_2_5_10_1","doi-asserted-by":"publisher","DOI":"10.18632\/oncotarget.436"}],"container-title":["Clinical 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