Characterization of SETD1A haploinsufficiency in humans and Drosophila defines a novel neurodevelopmental syndrome.

Autor: Kummeling J; Department of Human Genetics, Donders Institute for Brain, Cognition and Behavior, Radboud University Medical Center, P.O. Box 9101, 6500 HB, Nijmegen, The Netherlands., Stremmelaar DE; Department of Human Genetics, Donders Institute for Brain, Cognition and Behavior, Radboud University Medical Center, P.O. Box 9101, 6500 HB, Nijmegen, The Netherlands., Raun N; Department of Biochemistry and Molecular Biology, Dalhousie University, Halifax, NS, Canada.; Department of Physiology and Pharmacology, The University of Western Ontario, London, ON, Canada., Reijnders MRF; Department of Clinical Genetics and School for Oncology & Developmental Biology (GROW), Maastricht University Medical Center, 6229 ER, Maastricht, The Netherlands., Willemsen MH; Department of Human Genetics, Donders Institute for Brain, Cognition and Behavior, Radboud University Medical Center, P.O. Box 9101, 6500 HB, Nijmegen, The Netherlands., Ruiterkamp-Versteeg M; Department of Human Genetics, Donders Institute for Brain, Cognition and Behavior, Radboud University Medical Center, P.O. Box 9101, 6500 HB, Nijmegen, The Netherlands., Schepens M; Department of Human Genetics, Donders Institute for Brain, Cognition and Behavior, Radboud University Medical Center, P.O. Box 9101, 6500 HB, Nijmegen, The Netherlands., Man CCO; Department of Human Genetics, Donders Institute for Brain, Cognition and Behavior, Radboud University Medical Center, P.O. Box 9101, 6500 HB, Nijmegen, The Netherlands., Gilissen C; Department of Human Genetics, Donders Institute for Brain, Cognition and Behavior, Radboud University Medical Center, P.O. Box 9101, 6500 HB, Nijmegen, The Netherlands., Cho MT; GeneDx, Gaithersburg, MD, 20877, USA., McWalter K; GeneDx, Gaithersburg, MD, 20877, USA., Sinnema M; Department of Clinical Genetics and School for Oncology & Developmental Biology (GROW), Maastricht University Medical Center, 6229 ER, Maastricht, The Netherlands., Wheless JW; Division of Pediatric Neurology, University of Tennessee Health Science Center, Memphis, TN, USA.; Neuroscience Institute & Le Bonheur Comprehensive Epilepsy Program, Le Bonheur Children's Hospital, Memphis, TN, USA., Simon MEH; Department of Genetics, University Medical Center Utrecht, Utrecht University, Utrecht, The Netherlands., Genetti CA; Division of Genetics and Genomics, Department of Medicine, Boston Children's Hospital/Harvard Medical School, Boston, MA, USA.; The Manton Center for Orphan Disease Research, Boston Children's Hospital and Harvard Medical School, Boston, MA, 02115, USA., Casey AM; Division of Pulmonary and Respiratory Diseases, Boston Children's Hospital and Harvard Medical School, Boston, MA, 02115, USA., Terhal PA; Department of Genetics, University Medical Center Utrecht, Utrecht University, Utrecht, The Netherlands., van der Smagt JJ; Department of Genetics, University Medical Center Utrecht, Utrecht University, Utrecht, The Netherlands., van Gassen KLI; Department of Genetics, University Medical Center Utrecht, Utrecht University, Utrecht, The Netherlands., Joset P; Institute of Medical Genetics, University of Zurich, Schlieren, 8952, Zurich, Switzerland., Bahr A; Institute of Medical Genetics, University of Zurich, Schlieren, 8952, Zurich, Switzerland., Steindl K; Institute of Medical Genetics, University of Zurich, Schlieren, 8952, Zurich, Switzerland., Rauch A; Institute of Medical Genetics, University of Zurich, Schlieren, 8952, Zurich, Switzerland., Keller E; Division of Neuropediatrics, Cantonal Hospital Graubuenden, Chur, Switzerland., Raas-Rothschild A; Institute of Rare Disease, Danek Gertner Institute of Human Genetics, Sheba Medical Center, Tel Hashomer, Israel.; Sackler Faculty of Medicine, Tel Aviv University, Ramat Aviv, Israel., Koolen DA; Department of Human Genetics, Donders Institute for Brain, Cognition and Behavior, Radboud University Medical Center, P.O. Box 9101, 6500 HB, Nijmegen, The Netherlands., Agrawal PB; Division of Genetics and Genomics, Department of Medicine, Boston Children's Hospital/Harvard Medical School, Boston, MA, USA.; The Manton Center for Orphan Disease Research, Boston Children's Hospital and Harvard Medical School, Boston, MA, 02115, USA.; Division of Newborn Medicine, Boston Children's Hospital and Harvard Medical School, Boston, MA, 02115, USA., Hoffman TL; Regional Department of Genetics, Southern California Kaiser Permanente Medical Group, 1188N. Euclid Street, Anaheim, CA, 92801, USA., Powell-Hamilton NN; Division of Medical Genetics, Alfred I. duPont Hospital for Children, Wilmington, DE, 19803, USA.; Department of Pathology and Laboratory Medicine, University of Missouri-Kansas City School of Medicine, Kansas City, MO, USA., Thiffault I; Center for Pediatric Genomic Medicine, Children's Mercy Hospital, University of Missouri-Kansas City School of Medicine, Kansas City, MO, USA.; Division of Clinical Genetics, Children's Mercy Hospital, University of Missouri-Kansas City School of Medicine, Kansas City, MO, USA., Engleman K; Department of Pediatrics, Children's Mercy Hospital, University of Missouri-Kansas City School of Medicine, Kansas City, MO, USA., Zhou D; Department of Pediatrics, Children's Mercy Hospital, University of Missouri-Kansas City School of Medicine, Kansas City, MO, USA., Bodamer O; Division of Genetics and Genomics, Department of Medicine, Boston Children's Hospital/Harvard Medical School, Boston, MA, USA., Hoefele J; Institute of Human Genetics, Klinikum rechts der Isar, Technical University of Munich, Munich, Germany., Riedhammer KM; Institute of Human Genetics, Klinikum rechts der Isar, Technical University of Munich, Munich, Germany.; Department of Nephrology, Klinikum rechts der Isar, Technical University of Munich, Munich, Germany., Schwaibold EMC; Institute of Human Genetics, Heidelberg University, Heidelberg, Germany., Tasic V; Medical School Skopje, University Children's Hospital, Skopje, North Macedonia., Schubert D; Department of Cognitive Neuroscience, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, P.O. Box 9101, 6500 HB, Nijmegen, The Netherlands., Top D; Department of Pediatrics, Dalhousie University, Halifax, NS, Canada., Pfundt R; Department of Human Genetics, Donders Institute for Brain, Cognition and Behavior, Radboud University Medical Center, P.O. Box 9101, 6500 HB, Nijmegen, The Netherlands., Higgs MR; Institute of Cancer and Genomic Sciences, College of Medical and Dental Sciences, University of Birmingham, Birmingham, B15 2TT, UK., Kramer JM; Department of Biochemistry and Molecular Biology, Dalhousie University, Halifax, NS, Canada.; Department of Physiology and Pharmacology, The University of Western Ontario, London, ON, Canada., Kleefstra T; Department of Human Genetics, Donders Institute for Brain, Cognition and Behavior, Radboud University Medical Center, P.O. Box 9101, 6500 HB, Nijmegen, The Netherlands. Tjitske.Kleefstra@radboudumc.nl.

Publikováno v: Molecular psychiatry [Mol Psychiatry] 2021 Jun; Vol. 26 (6), pp. 2013-2024. Date of Electronic Publication: 2020 Apr 28.