Recurrent de novo missense variants across multiple histone H4 genes underlie a neurodevelopmental syndrome.

Autor: Tessadori F; Hubrecht Institute-KNAW and University Medical Center Utrecht, Uppsalalaan 8, 3584 Utrecht, the Netherlands., Duran K; Department of Genetics, Center for Molecular Medicine, University Medical Center Utrecht, Utrecht University, 3584 Utrecht, the Netherlands., Knapp K; Department of Biochemistry, University of Otago, Dunedin 9016, New Zealand., Fellner M; Department of Biochemistry, University of Otago, Dunedin 9016, New Zealand., Smithson S; Bristol Regional Genetics Service, University Hospitals Bristol and Weston NHS Foundation Trust, Bristol BS2 8EG, UK., Beleza Meireles A; Bristol Regional Genetics Service, University Hospitals Bristol and Weston NHS Foundation Trust, Bristol BS2 8EG, UK., Elting MW; Amsterdam UMC, Afdeling Klinische genetica, 1081 Amsterdam, the Netherlands., Waisfisz Q; Amsterdam UMC, Afdeling Klinische genetica, 1081 Amsterdam, the Netherlands., O'Donnell-Luria A; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA 02142, USA; Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA 02115, USA; Manton Center for Orphan Disease Research, Boston Children's Hospital, Boston, MA 02115, USA., Nowak C; Manton Center for Orphan Disease Research, Boston Children's Hospital, Boston, MA 02115, USA., Douglas J; Manton Center for Orphan Disease Research, Boston Children's Hospital, Boston, MA 02115, USA., Ronan A; Clinical Genetics, Hunter Genetics Unit, Waratah, NSW 2298, Australia., Brunet T; Institute of Medical Genetics, 81675 Munchen, Germany; Institute of Neurogenomics, Helmholtz Zentrum München, 85764 Neuherberg, Germany., Kotzaeridou U; Division of Child Neurology and Inherited Metabolic Diseases, Department of Pediatrics, Heidelberg University Hospital, 69120 Heidelberg, Germany., Svihovec S; Section of Genetics and Metabolism, Department of Pediatrics, The Children's Hospital Colorado, University of Colorado Anschutz Medical Campus, Aurora, CO 80045, USA., Saenz MS; Section of Genetics and Metabolism, Department of Pediatrics, The Children's Hospital Colorado, University of Colorado Anschutz Medical Campus, Aurora, CO 80045, USA., Thiffault I; University of Missouri-Kansas City School of Medicine, Kansas City, MO 64108, USA; Center for Genomic Medicine, Children's Mercy Research Institute, Kansas City, MO 64108, USA; Department of Pathology and Laboratory Medicine, Children's Mercy Hospital, Kansas City, MO 64108, USA., Del Viso F; Center for Genomic Medicine, Children's Mercy Research Institute, Kansas City, MO 64108, USA; Department of Pathology and Laboratory Medicine, Children's Mercy Hospital, Kansas City, MO 64108, USA., Devine P; Institute for Human Genetics, University of California, San Francisco, San Francisco, CA 94143, USA., Rego S; Institute for Human Genetics, University of California, San Francisco, San Francisco, CA 94143, USA., Tenney J; Division of Medical Genetics, Department of Pediatrics, University of California, San Francisco, San Francisco, CA 94143, USA., van Haeringen A; Department of Clinical Genetics, Leiden University Medical Center, 2333 Leiden, the Netherlands., Ruivenkamp CAL; Department of Clinical Genetics, Leiden University Medical Center, 2333 Leiden, the Netherlands., Koene S; Department of Clinical Genetics, Leiden University Medical Center, 2333 Leiden, the Netherlands., Robertson SP; Department of Women's and Children's Health, Dunedin School of Medicine, University of Otago, Dunedin 9016, New Zealand., Deshpande C; Guy's and St Thomas' NHS Foundation Trust, London SE1 9RT, UK., Pfundt R; Department of Human Genetics, Radboud University Medical Centre, 6500 HB Nijmegen, the Netherlands., Verbeek N; Department of Genetics, University Medical Centre Utrecht, 3584 CX Utrecht, the Netherlands., van de Kamp JM; Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA 02115, USA., Weiss JMM; Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA 02115, USA; Department of Human Genetics, Radboud University Medical Centre, 6500 HB Nijmegen, the Netherlands., Ruiz A; Genetics Laboratory, UDIAT-Centre Diagnòstic, Parc Taulí Hospital Universitari, Institut d'Investigació i Innovació Parc Taulí I3PT, Universitat Autònoma de Barcelona, 08208 Sabadell, Spain., Gabau E; Paediatric Unit, Parc Taulí Hospital Universitari, Institut d'Investigació i Innovació Parc Taulí I3PT, Universitat Autònoma de Barcelona, 08208 Sabadell, Barcelona, Spain., Banne E; Kaplan Medical Center, Clalit Health Services, Rehovot 76100, Israel., Pepler A; Praxis für Humangenetik Tübingen, 72076 Tuebingen, Germany., Bottani A; Service of Genetic Medicine, Geneva University Hospitals, 1205 Geneva, Switzerland., Laurent S; Department of Genetic Medicine, University Hospitals of Geneva and University of Geneva Medical Faculty, Geneva 1211, Switzerland., Guipponi M; Department of Genetic Medicine, University Hospitals of Geneva and University of Geneva Medical Faculty, Geneva 1211, Switzerland., Bijlsma E; Department of Clinical Genetics, Leiden University Medical Center, 2333 Leiden, the Netherlands., Bruel AL; UMR1231 GAD, Inserm - Université Bourgogne-Franche Comté, 21078 Dijon, France; Centre de Référence Déficiences Intellectuelles de Causes Rares, Dijon Bourgogne University Hospital, 21079 Dijon, France., Sorlin A; Centre de Référence Maladies Rares 'Anomalies du développement et syndromes malformatifs,' Centre de Génétique, FHU-TRANSLAD, Dijon Bourgogne University Hospital, 21079 Dijon, France., Willis M; Department of Pediatrics, Naval Medical Center San Diego, San Diego, CA 92134, USA., Powis Z; Ambry Genetics, CA 92656, USA., Smol T; Univ. Lille, RADEME EA7364, CHU Lille, Institut de Génétique Médicale, 59000 Lille, France., Vincent-Delorme C; Department of Clinical Genetics, CHU Lille, 59000 Lille, France., Baralle D; Faculty of Medicine, University of Southampton, Southampton SO16 6YD, UK., Colin E; Service de Génétique Médicale, CHU d'Angers, 49933 Angers, France., Revencu N; Center for Human Genetics, Cliniques Universitaires Saint-Luc, Université Catholique de Louvain, 1200 Brussels, Belgium., Calpena E; MRC Weatherall Institute of Molecular Medicine, University of Oxford, John Radcliffe Hospital, Oxford OX3 9DS, UK., Wilkie AOM; MRC Weatherall Institute of Molecular Medicine, University of Oxford, John Radcliffe Hospital, Oxford OX3 9DS, UK., Chopra M; Rosamund Stone Zander Translational Neuroscience Center, Boston Children's Hospital, Boston, MA 02115, USA., Cormier-Daire V; Université de Paris, Department of Clinical Genetics and Reference Centre for Constitutional Bone Diseases, INSERM U1163, Imagine Institute, Necker-Enfants Malades Hospital, AP-HP, 75015 Paris, France., Keren B; Genetic Department, APHP, Sorbonne Université, Pitié-Salpêtrière Hospital, 47-83 Boulevard de l'Hôpital, 75013 Paris, France., Afenjar A; CRMR Malformations et Maladies Congénitales du Cervelet et Déficiences Intellectuelles de Causes Rares, Département de Génétique, Sorbonne Université, AP-HP, Hôpital Trousseau, 75012 Paris, France., Niceta M; Area di Ricerca Genetica e Malattie Rare, Ospedale Pediatrico Bambino Gesù, IRCCS, 00146 Rome, Italy., Terracciano A; Area di Ricerca Medicina Multimodale di Laboratorio, Ospedale Pediatrico Bambino Gesù, IRCCS, 00146 Rome, Italy., Specchio N; Area di Ricerca Scienze Neurologiche e Medicina Riabilitativa, Ospedale Pediatrico Bambino Gesù, IRCCS, 00163 Rome, Italy., Tartaglia M; Area di Ricerca Genetica e Malattie Rare, Ospedale Pediatrico Bambino Gesù, IRCCS, 00146 Rome, Italy., Rio M; Department of Genetics, Necker Enfants Malades Hospital, Paris Descartes-Sorbonne Paris Cité University, 75015 Paris, France., Barcia G; Department of Genetics, Necker Enfants Malades Hospital, Paris Descartes-Sorbonne Paris Cité University, 75015 Paris, France., Rondeau S; Department of Genetics, Necker Enfants Malades Hospital, Paris Descartes-Sorbonne Paris Cité University, 75015 Paris, France., Colson C; CHU Lille, Clinique de Génétique, 59000 Lille, France., Bakkers J; Hubrecht Institute-KNAW and University Medical Center Utrecht, Uppsalalaan 8, 3584 Utrecht, the Netherlands; Department of Pediatric Cardiology, Division of Pediatrics, University Medical Center Utrecht, 3584 Utrecht, the Netherlands., Mace PD; Department of Biochemistry, University of Otago, Dunedin 9016, New Zealand., Bicknell LS; Department of Biochemistry, University of Otago, Dunedin 9016, New Zealand. Electronic address: louise.bicknell@otago.ac.nz., van Haaften G; Department of Genetics, Center for Molecular Medicine, University Medical Center Utrecht, Utrecht University, 3584 Utrecht, the Netherlands. Electronic address: g.vanhaaften@umcutrecht.nl.

Publikováno v: American journal of human genetics [Am J Hum Genet] 2022 Apr 07; Vol. 109 (4), pp. 750-758. Date of Electronic Publication: 2022 Feb 23.