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

Teresa Romeo Luperchio; Carolyn D Applegate; Olaf Bodamer; Hans Tomas Bjornsson

doi:10.1002/mgg3.1072

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

Mol Genet Genomic Med. 2020 Feb;8(2):e1072. doi: 10.1002/mgg3.1072. Epub 2019 Dec 8.

Authors

Teresa Romeo Luperchio¹, Carolyn D Applegate¹, Olaf Bodamer^{2

3}, Hans Tomas Bjornsson^{1

4

5

6}

Affiliations

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.

Abstract

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.

Publication types

Case Reports
Letter
Research Support, Non-U.S. Gov't

MeSH terms

Abnormalities, Multiple / genetics*
Abnormalities, Multiple / pathology
DNA-Binding Proteins / genetics*
Face / abnormalities*
Face / pathology
Female
Gene Deletion
Haploinsufficiency
Hematologic Diseases / genetics*
Hematologic Diseases / pathology
Humans
Infant
Neoplasm Proteins / genetics*
Phenotype*
Vestibular Diseases / genetics*
Vestibular Diseases / pathology

Substances

DNA-Binding Proteins
KMT2D protein, human
Neoplasm Proteins

Supplementary concepts

Kabuki syndrome

Grants and funding

WT_/Wellcome Trust/United Kingdom