• Haploinsufficiency of KMT2D is sufficient to cause Kabuki syndrome and is compatible with life.

      Luperchio, Teresa Romeo; Applegate, Carolyn D; Bodamer, Olaf; Bjornsson, Hans Tomas; 1 McKusick-Nathans Department of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, MD, USA. 2 Division of Genetics and Genomics, Department of Pediatrics, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA. 3 Broad Institute of MIT and Harvard University, Cambridge, MA, USA. 4 Department of Pediatrics, Johns Hopkins University School of Medicine, Baltimore, MD, USA. 5 Faculty of Medicine, School of Health Sciences, University of Iceland, Reykjavik, Iceland. 6 Landspitali University Hospital, Reykjavik, Iceland. (Wiley, 2019-12-08)
      We present the first patient described with haploinsufficency of KMT2D leading to Kabuki syndrome. Deletion of KMT2D has been thought to be lethal, but here we describe a patient with KMT2D deletion and classical Kabuki syndrome phenotype.