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Many variants have been identified in two causative genes, that is, lysine methyltransferase 2D (<jats:italic>KMT2D<\/jats:italic>) and lysine demethylase 6A (<jats:italic>KDM6A<\/jats:italic>). In this study, we present the results of genetic screening of 100 patients with a suspected diagnosis of Kabuki syndrome in our center from July 2010 to June 2018. We identified 76 variants (43 novel) in<jats:italic>KMT2D<\/jats:italic>and 4 variants (3 novel) in<jats:italic>KDM6A<\/jats:italic>as pathogenic or likely pathogenic. Rare variants included a deep splicing variant (c.14000\u20108C&gt;G) confirmed by RNA sequencing and an 18% mosaicism level for a<jats:italic>KMT2D<\/jats:italic>mutation. We also characterized a case with a blended phenotype consisting of Kabuki syndrome, osteogenesis imperfecta, and 16p13.11 microdeletion. We summarized the clinical phenotypes of 44 patients including a patient who developed cervical cancer of unknown origin at 16\u2009years of age. This study presents important details of patients with Kabuki syndrome including rare clinical cases and expands our genetic understanding of this syndrome, which will help clinicians and researchers better manage and understand patients with Kabuki syndrome they may encounter.<\/jats:p>","DOI":"10.1002\/ajmg.a.61793","type":"journal-article","created":{"date-parts":[[2020,8,28]],"date-time":"2020-08-28T03:14:25Z","timestamp":1598584465000},"page":"2333-2344","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":38,"title":["Update of the genotype and phenotype of<scp><i>KMT2D<\/i><\/scp>and<scp><i>KDM6A<\/i><\/scp>by genetic screening of 100 patients with clinically suspected Kabuki syndrome"],"prefix":"10.1002","volume":"182","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-6646-6263","authenticated-orcid":false,"given":"Hiroaki","family":"Murakami","sequence":"first","affiliation":[{"name":"Division of Medical Genetics Kanagawa 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