Mechanism of KMT5B haploinsufficiency in neurodevelopment in humans and mice.

Autor: Sheppard SE; Center for Applied Genomics, Children's Hospital of Philadelphia, Philadelphia, PA, USA.; Unit on Vascular Malformations, Division of Intramural Research, Eunice Kennedy Shriver National Institute of Child Health and Human Development, Bethesda, MD, USA., Bryant L; Center for Applied Genomics, Children's Hospital of Philadelphia, Philadelphia, PA, USA., Wickramasekara RN; Stessman Laboratory, Department of Pharmacology and Neuroscience, Creighton University Medical School, Omaha, NE, USA.; Molecular Diagnostic Laboratory, Boys Town National Research Hospital, Omaha, NE, USA., Vaccaro C; Center for Applied Genomics, Children's Hospital of Philadelphia, Philadelphia, PA, USA., Robertson B; Stessman Laboratory, Department of Pharmacology and Neuroscience, Creighton University Medical School, Omaha, NE, USA., Hallgren J; Stessman Laboratory, Department of Pharmacology and Neuroscience, Creighton University Medical School, Omaha, NE, USA., Hulen J; Stessman Laboratory, Department of Pharmacology and Neuroscience, Creighton University Medical School, Omaha, NE, USA., Watson CJ; Stessman Laboratory, Department of Pharmacology and Neuroscience, Creighton University Medical School, Omaha, NE, USA., Faundes V; Division of Evolution and Genomic Sciences, School of Biological Sciences, Faculty of Biology, Medicine and Health, University of Manchester, Manchester, UK.; Laboratorio de Genética y Enfermedades Metabólicas, Instituto de Nutrición y Tecnología de los Alimentos (INTA), Universidad de Chile, Santiago, Chile., Duffourd Y; Unité Fonctionnelle d'Innovation diagnostique des maladies rares, FHU-TRANSLAD, CHU Dijon Bourgogne, Dijon, France., Lee P; Abramson Family Cancer Research Institute, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA., Simon MC; Abramson Family Cancer Research Institute, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA., de la Cruz X; Vall d'Hebron Institute of Research (VHIR), Universitat Autònoma de Barcelona, Barcelona, Spain.; Institució Catalana de Recerca I Estudis Avançats (ICREA), Barcelona, Spain., Padilla N; Vall d'Hebron Institute of Research (VHIR), Universitat Autònoma de Barcelona, Barcelona, Spain., Flores-Mendez M; Raymond G. Perelman Center for Cellular and Molecular Therapeutics, Children's Hospital of Philadelphia, Philadelphia, PA, USA., Akizu N; Raymond G. Perelman Center for Cellular and Molecular Therapeutics, Children's Hospital of Philadelphia, Philadelphia, PA, USA.; Department of Pathology and Laboratory Medicine, University of Pennsylvania, Philadelphia, PA, USA., Smiler J; Center for Applied Genomics, Children's Hospital of Philadelphia, Philadelphia, PA, USA.; 10x Genomics, Pleasanton, CA, USA., Pellegrino Da Silva R; Center for Applied Genomics, Children's Hospital of Philadelphia, Philadelphia, PA, USA., Li D; Center for Applied Genomics, Children's Hospital of Philadelphia, Philadelphia, PA, USA., March M; Center for Applied Genomics, Children's Hospital of Philadelphia, Philadelphia, PA, USA., Diaz-Rosado A; Center for Applied Genomics, Children's Hospital of Philadelphia, Philadelphia, PA, USA., Peixoto de Barcelos I; Center for Applied Genomics, Children's Hospital of Philadelphia, Philadelphia, PA, USA., Choa ZX; Epithelial Epigenetics and Development Laboratory, A*STAR Skin Research Labs, Singapore, Singapore.; Department of Biochemistry, Yong Loo Lin School of Medicine, National University of Singapore, Singapore, Singapore., Lim CY; Epithelial Epigenetics and Development Laboratory, A*STAR Skin Research Labs, Singapore, Singapore.; Department of Biochemistry, Yong Loo Lin School of Medicine, National University of Singapore, Singapore, Singapore., Dubourg C; Laboratoire de Génétique Moléculaire et Génomique, Centre Hospitalier Universitaire de Rennes, Rennes 35033, France., Journel H; Service de Génétique Médicale, Hopital Chubert, Vannes, Bretagne, France., Demurger F; Department of Clinical Genetics, Service de Génétique Clinique, Centre de Référence Maladies Rares Centre Labellisé Anomalies du Développement-Ouest, Centre Hospitalier Universitaire de Rennes, Rennes 35033, France., Mulhern M; Department of Pathology, Columbia University Irving Medical Center, New York, NY, USA.; Department of Neurology, Columbia University Irving Medical Center, New York, NY, USA., Akman C; Department of Neurology, Columbia University Irving Medical Center, New York, NY, USA., Lippa N; Institute for Genomic Medicine, Columbia University Irving Medical Center, New York, NY, USA., Andrews M; Division of Genetics and Genomic Medicine, Department of Pediatrics, Washington University School of Medicine, St. Louis, MO, USA., Baldridge D; Division of Genetics and Genomic Medicine, Department of Pediatrics, Washington University School of Medicine, St. Louis, MO, USA., Constantino J; Department of Psychiatry, Washington University School of Medicine, St. Louis, MO, USA., van Haeringen A; Department of Clinical Genetics, Leiden University Medical Center, Leiden, Netherlands., Snoeck-Streef I; Department of Child Neurology, University Medical Center Utrecht, Utrecht, Netherlands., Chow P; Department of Pediatrics, Division of Craniofacial Medicine, University of Washington, Seattle, WA, USA., Hing A; Department of Pediatrics, Division of Craniofacial Medicine, University of Washington, Seattle, WA, USA., Graham JM Jr; Medical Genetics, Department of Pediatrics, Cedars-Sinai Medical Center, UCLA School of Medicine, Los Angeles, CA, USA., Au M; Medical Genetics, Department of Pediatrics, Cedars-Sinai Medical Center, UCLA School of Medicine, Los Angeles, CA, USA., Faivre L; UFR Des Sciences de Santé, INSERM-Université de Bourgogne UMR1231 GAD 'Génétique des Anomalies du Développement,' FHU-TRANSLAD, Dijon, France.; Centre de Référence Anomalies du Développement et Syndromes Malformatifs, CHU Dijon, Bourgogne, France., Shen W; University of Utah, Salt Lake City, UT, USA.; Mayo Clinic, Rochester, MN, USA., Mao R; University of Utah, Salt Lake City, UT, USA., Palumbos J; University of Utah, Salt Lake City, UT, USA., Viskochil D; University of Utah, Salt Lake City, UT, USA., Gahl W; NIH Undiagnosed Diseases Program, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA., Tifft C; NIH Undiagnosed Diseases Program, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA., Macnamara E; NIH Undiagnosed Diseases Program, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA., Hauser N; Medical Genetics, Inova Fairfax Hospital, Falls Church, VA, USA., Miller R; Medical Genetics, Inova Fairfax Hospital, Falls Church, VA, USA., Maffeo J; Medical Genetics, Inova Fairfax Hospital, Falls Church, VA, USA., Afenjar A; AP-HP, Sorbonne Université, Département de neuropediatrie, Hospital Armand Trousseau, Paris, France., Doummar D; AP-HP, Sorbonne Université, Département de neuropediatrie, Hospital Armand Trousseau, Paris, France., Keren B; Genetic Department, Pitié-Salpêtrière Hospital, AP-HP, Sorbonne Université, Paris, France., Arn P; Department of Pediatrics, Nemours Children's Specialty Care, Jacksonville, FL, USA., Macklin-Mantia S; Department of Clinical Genomics, Mayo Clinic Florida, Jacksonville, FL, USA., Meerschaut I; Center for Medical Genetics, Ghent University Hospital, Ghent, Belgium., Callewaert B; Center for Medical Genetics, Ghent University Hospital, Ghent, Belgium.; Department of Biomolecular Medicine, Ghent University, Ghent, Belgium., Reis A; Institute of Human Genetics, Friedrich-Alexander-Universität Erlangen-Nürnberg, 91054 Erlangen, Germany., Zweier C; Institute of Human Genetics, Friedrich-Alexander-Universität Erlangen-Nürnberg, 91054 Erlangen, Germany.; Department of Human Genetics, Inselspital, Bern University Hospital, University of Bern, 3010 Bern, Switzerland., Brewer C; Clinical Genetics Department, Royal Devon and Exeter Hospital (Heavitree), Exeter EX1 2ED, UK., Saggar A; Clinical Genetics Department, St George's Hospital, St George's Healthcare NHS Trust, London SW17 0QT, UK., Smeland MF; Department of Medical Genetics, University Hospital of North Norway, Tromsø, Norway.; Department of Pediatric Rehabilitation, University Hospital of North Norway, Norway., Kumar A; Northeast Thames Regional Genetics Service, Great Ormond Street Hospital, London WC1N 3JH, UK., Elmslie F; South West Thames Centre for Genomics, St George's University Hospitals NHS Foundation Trust, London SW17 0QT, UK., Deshpande C; Department of Medical Genetics, Guy's Hospital, London SE1 9RT, UK., Nizon M; CHU Nantes, Service de Génétique Médicale, 9 quai Moncousu, 44093 Nantes CEDEX 1, France., Cogne B; CHU Nantes, Service de Génétique Médicale, 9 quai Moncousu, 44093 Nantes CEDEX 1, France.; Nantes Université, CNRS, INSERM, L'institut du thorax, F-44000 Nantes, France., van Ierland Y; Department of Clinical Genetics, Erasmus University Medical Center, P.O. Box 2040, 3000 CA Rotterdam, Netherlands., Wilke M; Department of Clinical Genetics, Erasmus University Medical Center, P.O. Box 2040, 3000 CA Rotterdam, Netherlands., van Slegtenhorst M; Department of Clinical Genetics, Erasmus University Medical Center, P.O. Box 2040, 3000 CA Rotterdam, Netherlands., Koudijs S; Department of Neurology, Erasmus University Medical Center-Sophia Children's Hospital, P.O. Box 2040, 3000 CA Rotterdam, Netherlands., Chen JY; Neurology Department, Massachusetts General Hospital, Boston, MA, USA., Dredge D; University Children's Hospital Salzburg, Paracelsus Medical University (PMU), Salzburg, Austria., Pier D; Neurology Department, Massachusetts General Hospital, Boston, MA, USA., Wortmann S; University Children's Hospital Salzburg, Paracelsus Medical University (PMU), Salzburg, Austria.; Amalia Children's Hospital, RadboudUMC Nijmegen, Nijmegen, Netherlands., Kamsteeg EJ; University Children's Hospital Salzburg, Paracelsus Medical University (PMU), Salzburg, Austria., Koch J; University Children's Hospital Salzburg, Paracelsus Medical University (PMU), Salzburg, Austria., Haynes D; Division of Genetics, Arnold Palmer Hospital for Children-Orlando Health, Orlando, FL, USA., Pollack L; Division of Genetics, Arnold Palmer Hospital for Children-Orlando Health, Orlando, FL, USA., Titheradge H; West Midlands Regional Genetics Service and Birmingham Health Partners, Birmingham Women's and Children's NHS Trust, Birmingham B15 2TG, UK., Ranguin K; Department of Genetics, Reference Centre for Rare Diseases and Developmental Anomalies, Caen Hospital, Caen, France., Denommé-Pichon AS; Unité Fonctionnelle d'Innovation diagnostique des maladies rares, FHU-TRANSLAD, CHU Dijon Bourgogne, Dijon, France.; UFR Des Sciences de Santé, INSERM-Université de Bourgogne UMR1231 GAD 'Génétique des Anomalies du Développement,' FHU-TRANSLAD, Dijon, France., Weber S; Department of Genetics, Reference Centre for Rare Diseases and Developmental Anomalies, Caen Hospital, Caen, France., Pérez de la Fuente R; UDISGEN (Unidad de Dismorfología y Genética) 12 de Octubre University Hospital, Madrid, Spain., Sánchez Del Pozo J; UDISGEN (Unidad de Dismorfología y Genética) 12 de Octubre University Hospital, Madrid, Spain., Lezana Rosales JM; UDISGEN (Unidad de Dismorfología y Genética) 12 de Octubre University Hospital, Madrid, Spain., Joset P; University of Zurich, Institute of Medical Genetics, 8952 Schlieren-Zurich, Switzerland., Steindl K; University of Zurich, Institute of Medical Genetics, 8952 Schlieren-Zurich, Switzerland., Rauch A; University of Zurich, Institute of Medical Genetics, 8952 Schlieren-Zurich, Switzerland.; University of Zurich, University Children's Hospital Zurich, 8032 Zurich, Switzerland.; University of Zurich, URPP Adaptive Brain Circuits in Development and Learning (AdaBD), Zurich, Switzerland.; University of Zurich Research Priority Program (URPP) AdaBD: Adaptive Brain Circuits in Development and Learning, Zurich 8006, Switzerland.; University of Zurich Research Priority Program (URPP) ITINERARE: Innovative Therapies in Rare Diseases, Zurich 8006, Switzerland., Mei D; Paediatric Neurology Unit and Laboratories, Neuroscience Department, Meyer Children's Hospital IRCCS, Florence, Italy., Mari F; Paediatric Neurology Unit and Laboratories, Neuroscience Department, Meyer Children's Hospital IRCCS, Florence, Italy., Guerrini R; Paediatric Neurology Unit and Laboratories, Neuroscience Department, Meyer Children's Hospital IRCCS, Florence, Italy., Lespinasse J; UF de Génétique Chromosomique, Centre Hospitalier de Chambéry, Hôtel-dieu, France., Tran Mau-Them F; Unité Fonctionnelle d'Innovation diagnostique des maladies rares, FHU-TRANSLAD, CHU Dijon Bourgogne, Dijon, France.; UFR Des Sciences de Santé, INSERM-Université de Bourgogne UMR1231 GAD 'Génétique des Anomalies du Développement,' FHU-TRANSLAD, Dijon, France., Philippe C; Unité Fonctionnelle d'Innovation diagnostique des maladies rares, FHU-TRANSLAD, CHU Dijon Bourgogne, Dijon, France.; UFR Des Sciences de Santé, INSERM-Université de Bourgogne UMR1231 GAD 'Génétique des Anomalies du Développement,' FHU-TRANSLAD, Dijon, France., Dauriat B; Service de cytogénétique et génétique médicale, Centre Hospitalier Universitaire de Limoges, France., Raymond L; Service de génétique, Laboratoire Eurofins Biomnis, Lyon, France., Moutton S; Service de génétique, Laboratoire Eurofins Biomnis, Lyon, France., Cueto-González AM; Hospital Vall d'Hebron, Barcelona, Spain.; Department of Clinical and Molecular Genetics, Vall d'Hebron Barcelona Hospital Campus, Passeig Vall d'Hebron 119-129, 08035 Barcelona, Spain., Tan TY; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, VIC, Australia.; Department of Paediatrics, University of Melbourne, Melbourne, VIC, Australia., Mignot C; AP-HP, Sorbonne Université, Département de Génétique, Paris, France., Grotto S; AP-HP, Sorbonne Université, Département de Génétique, Paris, France., Renaldo F; AP-HP, Sorbonne Université, Département de neuropediatrie, Centre de référence neurogénétique, Hôpital Armand Trousseau, Paris, France., Drivas TG; Department of Genetics, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA, USA.; Division of Translational Medicine and Human Genetics, Department of Medicine, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA, USA., Hennessy L; Division of Translational Medicine and Human Genetics, Department of Medicine, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA, USA., Raper A; Division of Translational Medicine and Human Genetics, Department of Medicine, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA, USA., Parenti I; Institut für Humangenetik, Universitätsklinikum Essen, Universität Duisburg-Essen, Essen, Germany., Kaiser FJ; Institut für Humangenetik, Universitätsklinikum Essen, Universität Duisburg-Essen, Essen, Germany.; Essener Zentrum für Seltene Erkrankungen (EZSE), Universitätsklinikum Essen, Essen, Germany., Kuechler A; Institut für Humangenetik, Universitätsklinikum Essen, Universität Duisburg-Essen, Essen, Germany., Busk ØL; Department of Medical Genetics, Telemark Hospital Trust, 3710 Skien, Norway., Islam L; West Midlands Regional Genetics Service and Birmingham Health Partners, Birmingham Women's and Children's NHS Trust, Birmingham B15 2TG, UK., Siedlik JA; Department of Exercise Science and Pre-Health Professions, Creighton University, Omaha, NE, USA., Henderson LB; GeneDx, Gaithersburg, MD, USA., Juusola J; GeneDx, Gaithersburg, MD, USA., Person R; GeneDx, Gaithersburg, MD, USA., Schnur RE; GeneDx, Gaithersburg, MD, USA.; Department of Pediatrics, Division of Genetics Cooper Medical School of Rowan University Cooper University Health Care 3, Cooper Plaza, Camden, NJ, USA., Vitobello A; Unité Fonctionnelle d'Innovation diagnostique des maladies rares, FHU-TRANSLAD, CHU Dijon Bourgogne, Dijon, France.; UFR Des Sciences de Santé, INSERM-Université de Bourgogne UMR1231 GAD 'Génétique des Anomalies du Développement,' FHU-TRANSLAD, Dijon, France., Banka S; Division of Evolution and Genomic Sciences, School of Biological Sciences, Faculty of Biology, Medicine and Health, University of Manchester, Manchester, UK., Bhoj EJ; Center for Applied Genomics, Children's Hospital of Philadelphia, Philadelphia, PA, USA., Stessman HAF; Stessman Laboratory, Department of Pharmacology and Neuroscience, Creighton University Medical School, Omaha, NE, USA.

Publikováno v: Science advances [Sci Adv] 2023 Mar 10; Vol. 9 (10), pp. eade1463. Date of Electronic Publication: 2023 Mar 10.