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We report on two related individuals with facial findings characteristic of KS. The proposita had arched eyebrows, long and upward slanting palpebral fissures, cleft lip and palate, retromicrognathia, brachydactyly of hands and feet, stubby fingers, nail hypoplasia, and prominent finger pads. Her mother had eyebrows with dispersed lateral half, long and upward slanting palpebral fissures, retrognathia, abnormal and posteriorly rotated ears, prominent finger pads, brachydactyly of feet, learning difficulties, and psychomotor development delay. DNA sequencing revealed a novel missense mutation in the <jats:italic>MLL2<\/jats:italic> gene in both the proposita and her mother. The mutation (p.R5432Q) was found in the exon 51, within the SET domain of the gene, which confers methyltransferase activity on the protein. Therefore, the epigenetic and transcriptional regulatory properties of this protein may be altered and this suggests that the mutation is the cause of phenotype observed in both the patient and her mother. The clinical signs and the molecular evidence in this family further support the notion that KS is an autosomal dominant condition with variable expressivity. To our knowledge this is the first report of a Brazilian family with recurrence of this syndrome. \u00a9 2012 Wiley Periodicals, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.a.35454","type":"journal-article","created":{"date-parts":[[2012,6,27]],"date-time":"2012-06-27T20:20:12Z","timestamp":1340828412000},"page":"2003-2008","source":"Crossref","is-referenced-by-count":21,"title":["Analysis of <i>MLL2<\/i> gene in the first Brazilian family with Kabuki syndrome"],"prefix":"10.1002","volume":"158A","author":[{"given":"Nancy Mizue","family":"Kokitsu\u2010Nakata","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Aline Louren\u00e7o","family":"Petrin","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jason Paul","family":"Heard","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Siulan","family":"Vendramini\u2010Pittoli","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Laura E","family":"Henkle","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Daniela Vera Cruz","family":"dos Santos","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jeffrey Clark","family":"Murray","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Antonio","family":"Richieri\u2010Costa","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2012,6,27]]},"reference":[{"key":"e_1_2_6_2_1","first-page":"309","article-title":"Anorectal anomalies, diaphragmatic defect, cleft palate, lower lip pits, hypopigmentation and hypogammaglobulinemia A in Kabuki syndrome: A rare combination","volume":"19","author":"Abdel\u2010Salam GM","year":"2008","journal-title":"Genet Couns"},{"key":"e_1_2_6_3_1","volume-title":"GeneReviews [Internet]","author":"Adam MP","year":"2011"},{"key":"e_1_2_6_4_1","doi-asserted-by":"publisher","DOI":"10.1597\/1545-1569(1995)032<0077:KSURPI>2.3.CO;2"},{"key":"e_1_2_6_5_1","doi-asserted-by":"publisher","DOI":"10.1002\/1096-8628(20000731)93:3<244::AID-AJMG17>3.0.CO;2-2"},{"key":"e_1_2_6_6_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320470326"},{"key":"e_1_2_6_7_1","first-page":"43","article-title":"Niikawa\u2013Kuroki (Kabuki) syndrome in two siblings","volume":"53","author":"Frediani T","year":"2001","journal-title":"Minerva Pediatr"},{"key":"e_1_2_6_8_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320590303"},{"key":"e_1_2_6_9_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320330317"},{"key":"e_1_2_6_10_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.34074"},{"key":"e_1_2_6_11_1","first-page":"307","article-title":"Variable expressivity in a family with Kabuki make\u2010up (Niikawa\u2013Kuroki) syndrome","volume":"27","author":"Hou JW","year":"2004","journal-title":"Chang Gung Med J"},{"key":"e_1_2_6_12_1","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1096-8628(20000515)92:2<87::AID-AJMG1>3.0.CO;2-G"},{"key":"e_1_2_6_13_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320560202"},{"key":"e_1_2_6_14_1","doi-asserted-by":"publisher","DOI":"10.1128\/MCB.01506-06"},{"key":"e_1_2_6_15_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320610105"},{"key":"e_1_2_6_16_1","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1096-8628(19990917)86:3<282::AID-AJMG17>3.0.CO;2-Q"},{"key":"e_1_2_6_17_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-3476(81)80256-9"},{"key":"e_1_2_6_18_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00439-011-1004-y"},{"key":"e_1_2_6_19_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.braindev.2009.12.006"},{"key":"e_1_2_6_20_1","doi-asserted-by":"publisher","DOI":"10.3171\/2010.5.PEDS09286"},{"key":"e_1_2_6_21_1","doi-asserted-by":"publisher","DOI":"10.1016\/0022-3468(92)90523-A"},{"key":"e_1_2_6_22_1","first-page":"439","volume-title":"Mendelian inheritance in man. 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