De Novo Variants in the ATPase Module of MORC2 Cause a Neurodevelopmental Disorder with Growth Retardation and Variable Craniofacial Dysmorphism.

Autor: Guillen Sacoto MJ; GeneDx, Inc., Gaithersburg, MD 20877, USA. Electronic address: mguillen@genedx.com., Tchasovnikarova IA; Department of Molecular Biology, Massachusetts General Hospital, Boston, MA 02114, USA; Department of Genetics, Harvard Medical School, Boston, MA 02114, USA., Torti E; GeneDx, Inc., Gaithersburg, MD 20877, USA., Forster C; GeneDx, Inc., Gaithersburg, MD 20877, USA., Andrew EH; Myelin Disorders Program, Rare Disease Institute, Children's National Hospital, Washington, DC 20010, USA., Anselm I; Department of Neurology, Boston Children's Hospital, Boston, MA 02115, USA., Baranano KW; Department of Neurology, Johns Hopkins School of Medicine, Baltimore, MD 21287, USA., Briere LC; Department of Medical Genetics and Metabolism, Massachusetts General Hospital, Boston, MA 02114, USA., Cohen JS; Department of Neurology, Johns Hopkins School of Medicine, Baltimore, MD 21287, USA; Department of Neurology and Developmental Medicine, Division of Neurogenetics, Kennedy Krieger Institute, Baltimore, MD 21205, USA; Center for Genetic Muscle Disorders, Kennedy Krieger Institute, Baltimore, MD 21205, USA., Craigen WJ; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA., Cytrynbaum C; Program in Genetics and Genome Biology, The Hospital for Sick Children, Toronto, ON M5G 1X8, Canada; Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, Toronto, ON M5G 1X8, Canada., Ekhilevitch N; The Genetics Institute, Rambam Health Care Campus, Haifa 3109601, Israel., Elrick MJ; Department of Neurology, Johns Hopkins School of Medicine, Baltimore, MD 21287, USA., Fatemi A; Department of Neurology, Johns Hopkins School of Medicine, Baltimore, MD 21287, USA; Department of Neurology and Developmental Medicine, Division of Neurogenetics, Kennedy Krieger Institute, Baltimore, MD 21205, USA; Department of Pediatrics, Johns Hopkins University School of Medicine, Baltimore, MD 21287, USA., Fraser JL; Myelin Disorders Program, Rare Disease Institute, Children's National Hospital, Washington, DC 20010, USA., Gallagher RC; Department of Pediatrics, Division of Medical Genetics, University of California, San Francisco, CA 94158, USA., Guerin A; Division of Medical Genetics, Department of Pediatrics, Queen's University, Kingston, ON K7L 2V7, Canada., Haynes D; Division of Genetics, Arnold Palmer Hospital for Children, Orlando Health, Orlando, FL 32806, USA., High FA; Department of Medical Genetics and Metabolism, Massachusetts General Hospital, Boston, MA 02114, USA., Inglese CN; Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, Toronto, ON M5G 1X8, Canada., Kiss C; Division of Medical Genetics, Department of Pediatrics, Queen's University, Kingston, ON K7L 2V7, Canada., Koenig MK; Department of Pediatrics, University of Texas McGovern Medical School, Houston, TX 77030, USA., Krier J; Division of Genetics, Department of Medicine, Brigham and Women's Hospital, Boston, MA 02115, USA., Lindstrom K; Division of Genetics and Metabolism, Phoenix Children's Hospital, Phoenix, AZ 85016, USA., Marble M; Department of Pediatrics, Division of Clinical Genetics and Metabolism, LSU Health Sciences Center and Children's Hospital, New Orleans, LA 70112, USA., Meddaugh H; Department of Clinical Genetics and Metabolism, Children's Hospital New Orleans, New Orleans, LA 70118, USA., Moran ES; Hassenfeld Children's Hospital at New York University Langone, New York University Langone Orthopedic Hospital, New York, NY 10003, USA., Morel CF; Fred A. Litwin Family Center in Genetic Medicine, University Health Network, Toronto, ON M5T 3L9, Canada; Department of Medicine, University of Toronto, Toronto, ON M5S 1A8, Canada., Mu W; McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, MD 21287, USA., Muller EA 2nd; Clinical Genetics, Stanford Children's Health, San Francisco, CA 94109, USA., Nance J; Department of Neurology, Johns Hopkins School of Medicine, Baltimore, MD 21287, USA; Center for Genetic Muscle Disorders, Kennedy Krieger Institute, Baltimore, MD 21205, USA., Natowicz MR; Institutes of Pathology and Laboratory Medicine and Genomic Medicine, Cleveland Clinic, Cleveland, OH 44195, USA., Numis AL; Department of Neurology and Pediatrics, University of California, San Francisco, San Francisco, CA 94158, USA., Ostrem B; Department of Neurology, Massachusetts General Hospital, Boston, MA 02114, USA., Pappas J; Clinical Genetic Services, Pediatrics, NYU Grossman School of Medicine, New York, NY 10016, USA., Stafstrom CE; Department of Neurology, Johns Hopkins School of Medicine, Baltimore, MD 21287, USA., Streff H; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA., Sweetser DA; Department of Medical Genetics and Metabolism, Massachusetts General Hospital, Boston, MA 02114, USA., Szybowska M; Fred A. Litwin Family Center in Genetic Medicine, University Health Network, Toronto, ON M5T 3L9, Canada., Walker MA; Department of Neurology, Division of Neurogenetics, Massachusetts General Hospital, Boston, MA 02114, USA., Wang W; GeneDx, Inc., Gaithersburg, MD 20877, USA., Weiss K; The Genetics Institute, Rambam Health Care Campus, Haifa 3109601, Israel., Weksberg R; Program in Genetics and Genome Biology, The Hospital for Sick Children, Toronto, ON M5G 1X8, Canada; Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, Toronto, ON M5G 1X8, Canada; Department of Pediatrics and Institute of Medical Science, University of Toronto, Toronto, ON M5G 1X8, Canada., Wheeler PG; Division of Genetics, Arnold Palmer Hospital for Children, Orlando Health, Orlando, FL 32806, USA., Yoon G; Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, Toronto, ON M5G 1X8, Canada., Kingston RE; Department of Molecular Biology, Massachusetts General Hospital, Boston, MA 02114, USA; Department of Genetics, Harvard Medical School, Boston, MA 02114, USA., Juusola J; GeneDx, Inc., Gaithersburg, MD 20877, USA.

Publikováno v: American journal of human genetics [Am J Hum Genet] 2020 Aug 06; Vol. 107 (2), pp. 352-363. Date of Electronic Publication: 2020 Jul 20.