Article
How genetically heterogeneous is Kabuki syndrome?: MLL2 testing in 116 patients, review and analyses of mutation and phenotypic spectrum.
European journal of human genetics : EJHG - 1 Apr 2012
Banka Siddharth, Veeramachaneni Ratna, Reardon William, Howard Emma, Bunstone Sancha, Ragge Nicola, Parker Michael J, Crow Yanick J, Kerr Bronwyn, Kingston Helen, Metcalfe Kay, Chandler Kate, Magee Alex, Stewart Fiona, McConnell Vivienne P M, Donnelly Deirdre E, Berland Siren, Houge Gunnar, Morton Jenny E, Oley Christine, Revencu Nicole, Park Soo-Mi, Davies Sally J, Fry Andrew E, Lynch Sally Ann, Gill Harinder, Schweiger Susann, Lam Wayne W K, Tolmie John, Mohammed Shehla N, Hobson Emma, Smith Audrey, Blyth Moira, Bennett Christopher, Vasudevan Pradeep C, García-Miñaúr Sixto, Henderson Alex, Goodship Judith, Wright Michael J, Fisher Richard, Gibbons Richard, Price Susan M, C de Silva Deepthi, Temple I Karen, Collins Amanda L, Lachlan Katherine, Elmslie Frances, McEntagart Meriel, Castle Bruce, Clayton-Smith Jill, Black Graeme C, Donnai Dian
Abstract excerpt
MLL2 mutations are detected in 55 to 80% of patients with Kabuki syndrome (KS). In 20 to 45% patients with KS, the genetic basis remains unknown, suggesting possible genetic heterogeneity. Here, we present the largest yet reported cohort of 116 patients with KS. We identified MLL2 variants in 74 patients, of which 47 are novel and a majority are truncating. We show that pathogenic missense mutations were commonly...
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