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Rare De Novo Missense Variants in RNA Helicase DDX6 Cause Intellectual Disability and Dysmorphic Features and Lead to P-Body Defects and RNA Dysregulation.
Balak, Chris; Benard, Marianne; Schaefer, Elise; Iqbal, Sumaiya; Ramsey, Keri; Ernoult-Lange, Michèle; Mattioli, Francesca; Llaci, Lorida; Geoffroy, Véronique; Courel, Maité; Naymik, Marcus; Bachman, Kristine K; Pfundt, Rolph; Rump, Patrick; Ter Beest, Johanna; Wentzensen, Ingrid M; Monaghan, Kristin G; McWalter, Kirsty; Richholt, Ryan; Le Béchec, Antony; Jepsen, Wayne; De Both, Matt; Belnap, Newell; Boland, Anne; Piras, Ignazio S; Deleuze, Jean-François; Szelinger, Szabolcs; Dollfus, Hélène; Chelly, Jamel; Muller, Jean; Campbell, Arthur; Lal, Dennis; Rangasamy, Sampathkumar; Mandel, Jean-Louis; Narayanan, Vinodh; Huentelman, Matt; Weil, Dominique; Piton, Amélie.
Affiliation
  • Balak C; Translational Genomics Research Institute, Neurogenomics Division, Phoenix, AZ 85004, USA; Translational Genomics Research Institute's Center for Rare Childhood Disorders, Phoenix, AZ 85012, USA. Electronic address: cbalak@ucsd.edu.
  • Benard M; Sorbonne Université, CNRS, Institut de Biologie Paris-Seine, Laboratoire de Biologie du Développement, F-75005 Paris, France.
  • Schaefer E; Medical Genetics Department, University Hospitals of Strasbourg, the Institute of Medical Genetics of Alsace, 67000 Strasbourg, France; Laboratoire de Génétique Médicale, Institut de Génétique Médicale d'Alsace, INSERM U1112, Fédération de Médecine Translationnelle de Strasbourg, Université de Stras
  • Iqbal S; Stanley Center for Psychiatric Research, Broad Institute of MIT and Harvard, Cambridge, MA 02142, USA; Analytic and Translational Genetics Unit, Massachusetts General Hospital, Boston, MA 02114, USA.
  • Ramsey K; Translational Genomics Research Institute, Neurogenomics Division, Phoenix, AZ 85004, USA; Translational Genomics Research Institute's Center for Rare Childhood Disorders, Phoenix, AZ 85012, USA.
  • Ernoult-Lange M; Sorbonne Université, CNRS, Institut de Biologie Paris-Seine, Laboratoire de Biologie du Développement, F-75005 Paris, France.
  • Mattioli F; Institute of Genetics and Molecular and Cellular Biology, Illkirch, France; French National Center for Scientific Research, UMR7104, 67400 Illkirch, France; National Institute of Health and Medical Research U964, 67400 Illkirch, France; University of Strasbourg, 67081 Illkirch, France.
  • Llaci L; Translational Genomics Research Institute, Neurogenomics Division, Phoenix, AZ 85004, USA; Translational Genomics Research Institute's Center for Rare Childhood Disorders, Phoenix, AZ 85012, USA.
  • Geoffroy V; Laboratoire de Génétique Médicale, Institut de Génétique Médicale d'Alsace, INSERM U1112, Fédération de Médecine Translationnelle de Strasbourg, Université de Strasbourg, 67081 Strasbourg, France.
  • Courel M; Sorbonne Université, CNRS, Institut de Biologie Paris-Seine, Laboratoire de Biologie du Développement, F-75005 Paris, France.
  • Naymik M; Translational Genomics Research Institute, Neurogenomics Division, Phoenix, AZ 85004, USA; Translational Genomics Research Institute's Center for Rare Childhood Disorders, Phoenix, AZ 85012, USA.
  • Bachman KK; Geisinger Medical Center, Dansville, PA 17822, USA.
  • Pfundt R; Department of Genetics, University Medical Center Groningen, University of Groningen, 9713 GZ Groningen, the Netherlands.
  • Rump P; Radboud University Nijmegen Medical Center, Department of Human Genetics, Division of Genome Diagnostics, 6525 GA Nijmegen, the Netherlands.
  • Ter Beest J; Department of Genetics, University Medical Center Groningen, University of Groningen, 9713 GZ Groningen, the Netherlands.
  • Wentzensen IM; GeneDx, Gaithersburg, MD 20877, USA.
  • Monaghan KG; GeneDx, Gaithersburg, MD 20877, USA.
  • McWalter K; GeneDx, Gaithersburg, MD 20877, USA.
  • Richholt R; Translational Genomics Research Institute, Neurogenomics Division, Phoenix, AZ 85004, USA.
  • Le Béchec A; Medical Bioinformatics Unit, UF7363, Strasbourg University Hospital, 67000 Strasbourg, France.
  • Jepsen W; Translational Genomics Research Institute, Neurogenomics Division, Phoenix, AZ 85004, USA; Translational Genomics Research Institute's Center for Rare Childhood Disorders, Phoenix, AZ 85012, USA.
  • De Both M; Translational Genomics Research Institute, Neurogenomics Division, Phoenix, AZ 85004, USA; Translational Genomics Research Institute's Center for Rare Childhood Disorders, Phoenix, AZ 85012, USA.
  • Belnap N; Translational Genomics Research Institute's Center for Rare Childhood Disorders, Phoenix, AZ 85012, USA.
  • Boland A; Centre National de Recherche en Génomique Humaine, Institut de Biologie François Jacob, CEA, Université Paris-Saclay, F-91057, Evry, France.
  • Piras IS; Translational Genomics Research Institute, Neurogenomics Division, Phoenix, AZ 85004, USA; Translational Genomics Research Institute's Center for Rare Childhood Disorders, Phoenix, AZ 85012, USA.
  • Deleuze JF; Centre National de Recherche en Génomique Humaine, Institut de Biologie François Jacob, CEA, Université Paris-Saclay, F-91057, Evry, France.
  • Szelinger S; Translational Genomics Research Institute, Neurogenomics Division, Phoenix, AZ 85004, USA; Translational Genomics Research Institute's Center for Rare Childhood Disorders, Phoenix, AZ 85012, USA.
  • Dollfus H; Medical Genetics Department, University Hospitals of Strasbourg, the Institute of Medical Genetics of Alsace, 67000 Strasbourg, France; Laboratoire de Génétique Médicale, Institut de Génétique Médicale d'Alsace, INSERM U1112, Fédération de Médecine Translationnelle de Strasbourg, Université de Stras
  • Chelly J; Institute of Genetics and Molecular and Cellular Biology, Illkirch, France; French National Center for Scientific Research, UMR7104, 67400 Illkirch, France; National Institute of Health and Medical Research U964, 67400 Illkirch, France; University of Strasbourg, 67081 Illkirch, France; Molecular Gen
  • Muller J; Laboratoire de Génétique Médicale, Institut de Génétique Médicale d'Alsace, INSERM U1112, Fédération de Médecine Translationnelle de Strasbourg, Université de Strasbourg, 67081 Strasbourg, France; Molecular Genetics Unit, Strasbourg University Hospital, 67000 Strasbourg, France.
  • Campbell A; Stanley Center for Psychiatric Research, Broad Institute of MIT and Harvard, Cambridge, MA 02142, USA; Analytic and Translational Genetics Unit, Massachusetts General Hospital, Boston, MA 02114, USA.
  • Lal D; Stanley Center for Psychiatric Research, Broad Institute of MIT and Harvard, Cambridge, MA 02142, USA; Analytic and Translational Genetics Unit, Massachusetts General Hospital, Boston, MA 02114, USA; Epilepsy Center, Neurological Institute, Cleveland Clinic, Cleveland, OH 44195, USA; Genomic Medicin
  • Rangasamy S; Translational Genomics Research Institute, Neurogenomics Division, Phoenix, AZ 85004, USA; Translational Genomics Research Institute's Center for Rare Childhood Disorders, Phoenix, AZ 85012, USA.
  • Mandel JL; Institute of Genetics and Molecular and Cellular Biology, Illkirch, France; French National Center for Scientific Research, UMR7104, 67400 Illkirch, France; National Institute of Health and Medical Research U964, 67400 Illkirch, France; University of Strasbourg, 67081 Illkirch, France; University of
  • Narayanan V; Translational Genomics Research Institute, Neurogenomics Division, Phoenix, AZ 85004, USA; Translational Genomics Research Institute's Center for Rare Childhood Disorders, Phoenix, AZ 85012, USA.
  • Huentelman M; Translational Genomics Research Institute, Neurogenomics Division, Phoenix, AZ 85004, USA; Translational Genomics Research Institute's Center for Rare Childhood Disorders, Phoenix, AZ 85012, USA.
  • Weil D; Sorbonne Université, CNRS, Institut de Biologie Paris-Seine, Laboratoire de Biologie du Développement, F-75005 Paris, France.
  • Piton A; Institute of Genetics and Molecular and Cellular Biology, Illkirch, France; French National Center for Scientific Research, UMR7104, 67400 Illkirch, France; National Institute of Health and Medical Research U964, 67400 Illkirch, France; University of Strasbourg, 67081 Illkirch, France; Epilepsy Cent
Am J Hum Genet ; 105(3): 509-525, 2019 09 05.
Article in En | MEDLINE | ID: mdl-31422817
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: RNA / Proto-Oncogene Proteins / Mutation, Missense / DEAD-box RNA Helicases / Intellectual Disability Type of study: Prognostic_studies Limits: Humans Language: En Journal: Am J Hum Genet Year: 2019 Document type: Article
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: RNA / Proto-Oncogene Proteins / Mutation, Missense / DEAD-box RNA Helicases / Intellectual Disability Type of study: Prognostic_studies Limits: Humans Language: En Journal: Am J Hum Genet Year: 2019 Document type: Article