{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,1]],"date-time":"2026-10-01T18:39:28Z","timestamp":1790879968429,"version":"4.1.0"},"reference-count":33,"publisher":"Wiley","issue":"10","license":[{"start":{"date-parts":[[2022,8,8]],"date-time":"2022-08-08T00:00:00Z","timestamp":1659916800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2022,10]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Kabuki syndrome (KS) is a rare disorder characterized by distinct face, persistent fingertip pads, and intellectual disability (ID) caused by mutation in <jats:italic>KMT2D<\/jats:italic> (56%\u201376%) or <jats:italic>KDM6A<\/jats:italic> (5%\u20138%). Thirty\u2010seven children aged 1\u201316\u2009years who followed for median of 6.8\u2009years were included in this study, which aimed to investigate the genetic and clinical characteristics of KS patients. <jats:italic>KMT2D<\/jats:italic> and <jats:italic>KDM6A<\/jats:italic> were evaluated by sequencing and multiplex\u2010ligation\u2010dependent probe amplification in 32 patients. Twenty\u2010one pathogenic variants in <jats:italic>KMT2D<\/jats:italic>, of which 17 were truncated and nine were novel, one frame\u2010shift novel variant in <jats:italic>KDM6A<\/jats:italic> were identified. The molecular diagnosis rate was 68.7% (22\/32). In the whole\u2010exome sequencing analysis performed in the remaining patients, no pathogenic variant that could cause any disease was detected. All patients had ID; 43.2% were severe and moderate. We observed that facial features that became more prominent with age were enough for a possible diagnosis of KS in infancy. The frequencies of facial features, cardiac and renal anomalies, short stature, microcephaly, and epilepsy did not differ depending on whether they had truncating or nontruncating variants or were in variant\u2010negative KS\u2010like group. This study has expanded clinical features of the disease, as well as identified new variants in genes causing KS.<\/jats:p>","DOI":"10.1002\/ajmg.a.62944","type":"journal-article","created":{"date-parts":[[2022,8,8]],"date-time":"2022-08-08T08:15:08Z","timestamp":1659946508000},"page":"2976-2987","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":6,"title":["Investigation of genetic and phenotypic heterogeneity in 37 <scp>Turkish<\/scp> patients with <scp>Kabuki<\/scp> and <scp>Kabuki<\/scp>\u2010like phenotype"],"prefix":"10.1002","volume":"188","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-4849-2078","authenticated-orcid":false,"given":"Esra","family":"Usluer","sequence":"first","affiliation":[{"name":"Department of Pediatric Genetics Istanbul University\u2010Cerrahpasa, Cerrahpasa Faculty of Medicine  Istanbul Turkey"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"G\u00f6zde Ye\u015fil","family":"Say\u0131n","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics Bezmialem University, Medical School  Istanbul Turkey"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nilay","family":"G\u00fcne\u015f","sequence":"additional","affiliation":[{"name":"Department of Pediatric Genetics Istanbul University\u2010Cerrahpasa, Cerrahpasa Faculty of Medicine  Istanbul Turkey"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Bu\u015fra","family":"Kasap","sequence":"additional","affiliation":[{"name":"Department of Pediatric Genetics Istanbul University\u2010Cerrahpasa, Cerrahpasa Faculty of Medicine  Istanbul Turkey"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-9620-5021","authenticated-orcid":false,"given":"Beyhan","family":"T\u00fcys\u00fcz","sequence":"additional","affiliation":[{"name":"Department of Pediatric Genetics Istanbul University\u2010Cerrahpasa, Cerrahpasa Faculty of Medicine  Istanbul Turkey"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2022,8,8]]},"reference":[{"key":"e_1_2_12_2_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmedgenet-2018-105625"},{"key":"e_1_2_12_3_1","article-title":"GeneReviews\u00ae [Internet]. Seattle (WA): University of Washington, Seattle","author":"Adam M. P.","year":"2011","journal-title":"Available from"},{"key":"e_1_2_12_4_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.23833"},{"key":"e_1_2_12_5_1","doi-asserted-by":"publisher","DOI":"10.1038\/ejhg.2011.220"},{"key":"e_1_2_12_6_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.2012.01955.x"},{"key":"e_1_2_12_7_1","doi-asserted-by":"publisher","DOI":"10.1111\/cge.12363"},{"key":"e_1_2_12_8_1","doi-asserted-by":"publisher","DOI":"10.1111\/cge.12051"},{"key":"e_1_2_12_9_1","doi-asserted-by":"publisher","DOI":"10.1172\/JCI80102"},{"key":"e_1_2_12_10_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.23026"},{"key":"e_1_2_12_11_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00431-021-04108-w"},{"key":"e_1_2_12_12_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.gene.2017.06.056"},{"key":"e_1_2_12_13_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.34074"},{"key":"e_1_2_12_14_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.braindev.2017.03.02"},{"key":"e_1_2_12_15_1","doi-asserted-by":"publisher","DOI":"10.1016\/s0022-3476(81)80256-9"},{"key":"e_1_2_12_16_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2011.11.021"},{"key":"e_1_2_12_17_1","doi-asserted-by":"publisher","DOI":"10.1111\/cge.13010"},{"key":"e_1_2_12_18_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00439-011-1004-y"},{"key":"e_1_2_12_19_1","doi-asserted-by":"publisher","DOI":"10.1111\/cge.12983"},{"key":"e_1_2_12_20_1","doi-asserted-by":"publisher","DOI":"10.1186\/s12881-015-0171-4"},{"key":"e_1_2_12_21_1","doi-asserted-by":"publisher","DOI":"10.1111\/cge.12081"},{"key":"e_1_2_12_22_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.36072"},{"key":"e_1_2_12_23_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.20277"},{"key":"e_1_2_12_24_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.61793"},{"key":"e_1_2_12_25_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320310312"},{"key":"e_1_2_12_26_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng.646"},{"key":"e_1_2_12_27_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ejmg.2018.01.005"},{"key":"e_1_2_12_28_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.21416"},{"key":"e_1_2_12_29_1","doi-asserted-by":"publisher","DOI":"10.1038\/gim.2015.30"},{"key":"e_1_2_12_30_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.61462"},{"key":"e_1_2_12_31_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.61462"},{"key":"e_1_2_12_32_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.62003"},{"key":"e_1_2_12_33_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41431-017-0023-0"},{"key":"e_1_2_12_34_1","doi-asserted-by":"publisher","DOI":"10.1007\/s12519-019-00309-4"}],"container-title":["American Journal of Medical Genetics Part A"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.62944","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full-xml\/10.1002\/ajmg.a.62944","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.62944","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2024,2,21]],"date-time":"2024-02-21T06:43:27Z","timestamp":1708497807000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.a.62944"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2022,8,8]]},"references-count":33,"journal-issue":{"issue":"10","published-print":{"date-parts":[[2022,10]]}},"alternative-id":["10.1002\/ajmg.a.62944"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.a.62944","archive":["Portico"],"relation":{},"ISSN":["1552-4825","1552-4833"],"issn-type":[{"value":"1552-4825","type":"print"},{"value":"1552-4833","type":"electronic"}],"subject":[],"published":{"date-parts":[[2022,8,8]]},"assertion":[{"value":"2021-12-14","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2022-07-20","order":1,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2022-08-08","order":2,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}