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De novo mutations in MSL3 cause an X-linked syndrome marked by impaired histone H4 lysine 16 acetylation

  • Basilicata, M. Felicia1
  • Bruel, Ange-Line2
  • Semplicio, Giuseppe1
  • Valsecchi, Claudia Isabelle Keller1
  • Aktaş, Tuğçe1
  • Duffourd, Yannis2
  • Rumpf, Tobias1
  • Morton, Jenny3
  • Bache, Iben4, 5
  • Szymanski, Witold G.1
  • Gilissen, Christian6
  • Vanakker, Olivier7
  • Õunap, Katrin8
  • Mittler, Gerhard1
  • van der Burgt, Ineke6
  • El Chehadeh, Salima2, 9
  • Cho, Megan T.10
  • Pfundt, Rolph6
  • Tan, Tiong Yang11
  • Kirchhoff, Maria4
  • And 20 more
  • 1 Max Planck Institute of Immunobiology and Epigenetics, Freiburg im Breisgau, Germany , Freiburg im Breisgau (Germany)
  • 2 Université de Bourgogne-Franche Comté, Inserm UMR 1231 GAD, Genetics of Developmental disorders and Centre de Référence Maladies Rares Anomalies du Développement et syndromes malformatifs FHU TRANSLAD, Dijon, France , Dijon (France)
  • 3 Birmingham Women’s Hospital NHS Foundation Trust, West Midlands Regional Clinical Genetics Service and Birmingham Health Partners, Birmingham, UK , Birmingham (United Kingdom)
  • 4 Copenhagen University Hospital, Rigshospitalet, Department of Clinical Genetics, Copenhagen, Denmark , Copenhagen (Denmark)
  • 5 University of Copenhagen, Wilhelm Johannsen Centre for Functional Genome Research, Department of Cellular and Molecular Medicine, Copenhagen, Denmark , Copenhagen (Denmark)
  • 6 Donders Institute for Brain, Cognition and Behaviour, Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands , Nijmegen (Netherlands)
  • 7 Ghent University Hospital, Center for Medical Genetics, Ghent, Belgium , Ghent (Belgium)
  • 8 University of Tartu, Department of Clinical Genetics, United Laboratories, Tartu University Hospital and Institute of Clinical Medicine, Tartu, Estonia , Tartu (Estonia)
  • 9 Hôpital de Hautepierre, Service de Génétique Médicale, Strasbourg, France , Strasbourg (France)
  • 10 GeneDx, Gaithersburg, MD, USA , Gaithersburg (United States)
  • 11 University of Melbourne Department of Paediatrics, Victorian Clinical Genetics Services, Murdoch Children’s Research Institute, Royal Children’s Hospital, Parkville, VIC, Australia , Parkville (Australia)
  • 12 Phoenix Children’s Hospital, Division of Genetics and Metabolism, Phoenix, AZ, USA , Phoenix (United States)
  • 13 Friedrich-Alexander-Universität Erlangen-Nürnberg, Institute of Human Genetics, Erlangen, Germany , Erlangen (Germany)
  • 14 Sheffield Children’s NHS Foundation Trust, Sheffield Clinical Genetics Service, Sheffield, UK , Sheffield (United Kingdom)
  • 15 Liverpool Women’s NHS Foundation Trust, Department of Clinical Genetics, Liverpool, UK , Liverpool (United Kingdom)
  • 16 The James Cook University Hospital, Northern Genetics Service, Teesside Genetics Unit, Middlesbrough, UK , Middlesbrough (United Kingdom)
  • 17 Royal Children’s Hospital, Cytogenetic Laboratory, Victorian Clinical Genetics Services, Murdoch Children’s Research Institute, Melbourne, Victoria, Australia , Melbourne (Australia)
  • 18 Neuroscience Research Australia, Sydney, New South Wales, Australia , Sydney (Australia)
  • 19 University of New South Wales, Prince of Wales Clinical School, Sydney, New South Wales, Australia , Sydney (Australia)
  • 20 Sydney Children’s Hospital, Department of Medical Genetics, Sydney, New South Wales, Australia , Sydney (Australia)
  • 21 Ambry Genetics, Department of Clinical Genomics, Aliso Viejo, CA, USA , Aliso Viejo (United States)
  • 22 Cooper University Hospital and Cooper Medical School at Rowan University, Division of Genetics, Camden, NJ, USA , Camden (United States)
  • 23 Maastricht University Medical Center, Department of Clinical Genetics and School for Oncology and Developmental Biology, Maastricht, The Netherlands , Maastricht (Netherlands)
  • 24 University of Sydney, Department of Clinical Genetics, Children’s Hospital at Westmead, Disciplines of Genetic Medicine and Child and Adolescent Health, Sydney, New South Wales, Australia , Sydney (Australia)
  • 25 Max Planck Institute for Molecular Genetics, Research Group Development and Disease, Berlin, Germany , Berlin (Germany)
  • 26 CNRS UMR 5309, INSERM, U1209, Institute of Advanced Biosciences, Université Grenoble-Alpes CHU Grenoble, Grenoble, France , Grenoble (France)
Published Article
Nature Genetics
Springer Nature
Publication Date
Sep 17, 2018
DOI: 10.1038/s41588-018-0220-y
Springer Nature


De novo mutations in MSL3 cause an X-linked syndrome affecting both males and females. MSL3 mutations reduce H4K16ac levels and lead to misregulation of cellular pathways involved in morphogenesis, cellular shape, and cell migration.

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