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Dual Molecular Effects of Dominant RORA Mutations Cause Two Variants of Syndromic Intellectual Disability with Either Autism or Cerebellar Ataxia.
Guissart, Claire; Latypova, Xenia; Rollier, Paul; Khan, Tahir N; Stamberger, Hannah; McWalter, Kirsty; Cho, Megan T; Kjaergaard, Susanne; Weckhuysen, Sarah; Lesca, Gaetan; Besnard, Thomas; Õunap, Katrin; Schema, Lynn; Chiocchetti, Andreas G; McDonald, Marie; de Bellescize, Julitta; Vincent, Marie; Van Esch, Hilde; Sattler, Shannon; Forghani, Irman; Thiffault, Isabelle; Freitag, Christine M; Barbouth, Deborah Sara; Cadieux-Dion, Maxime; Willaert, Rebecca; Guillen Sacoto, Maria J; Safina, Nicole P; Dubourg, Christèle; Grote, Lauren; Carré, Wilfrid; Saunders, Carol; Pajusalu, Sander; Farrow, Emily; Boland, Anne; Karlowicz, Danielle Hays; Deleuze, Jean-François; Wojcik, Monica H; Pressman, Rena; Isidor, Bertrand; Vogels, Annick; Van Paesschen, Wim; Al-Gazali, Lihadh; Al Shamsi, Aisha Mohamed; Claustres, Mireille; Pujol, Aurora; Sanders, Stephan J; Rivier, François; Leboucq, Nicolas; Cogné, Benjamin; Sasorith, Souphatta.
  • Guissart C; EA7402 Institut Universitaire de Recherche Clinique, and Laboratoire de Génétique Moléculaire, CHU and Université de Montpellier, 34093 Montpellier, France.
  • Latypova X; Service de Génétique Médicale, CHU Nantes, 9 quai Moncousu, 44093 Nantes Cedex 1, France; Center for Human Disease Modeling, Duke University Medical Center, Durham, NC 27701, USA; l'institut du thorax, INSERM, CNRS, UNIV Nantes, 44007 Nantes, France.
  • Rollier P; Service de Génétique Clinique, Centre Référence "Déficiences Intellectuelles de causes rares" (CRDI), Centre de référence anomalies du développement CLAD-Ouest, CHU Rennes, 35203 Rennes, France.
  • Khan TN; Center for Human Disease Modeling, Duke University Medical Center, Durham, NC 27701, USA.
  • Stamberger H; Division of Neurology, University Hospital Antwerp (UZA), 2610 Antwerp, Belgium; Neurogenetics Group, Center for Molecular Neurology, VIB, 2650 Antwerp, Belgium; Laboratory of Neurogenetics, Institute Born-Bunge, University of Antwerp, 2650 Antwerp, Belgium.
  • McWalter K; GeneDx, 207 Perry Parkway, Gaithersburg, MD 20877, USA.
  • Cho MT; GeneDx, 207 Perry Parkway, Gaithersburg, MD 20877, USA.
  • Kjaergaard S; Chromosome Laboratory, Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet, 2100 Copenhagen, Denmark.
  • Weckhuysen S; Division of Neurology, University Hospital Antwerp (UZA), 2610 Antwerp, Belgium; Neurogenetics Group, Center for Molecular Neurology, VIB, 2650 Antwerp, Belgium; Laboratory of Neurogenetics, Institute Born-Bunge, University of Antwerp, 2650 Antwerp, Belgium.
  • Lesca G; Service de génétique, Groupement Hospitalier Est, Hospices Civils de Lyon, Lyon, France; INSERM U1028, CNRS UMR5292, Centre de Recherche en Neurosciences de Lyon, Université Claude Bernard Lyon 1, Lyon, France.
  • Besnard T; Service de Génétique Médicale, CHU Nantes, 9 quai Moncousu, 44093 Nantes Cedex 1, France; l'institut du thorax, INSERM, CNRS, UNIV Nantes, 44007 Nantes, France.
  • Õunap K; Department of Clinical Genetics, United Laboratories, Tartu University Hospital and Institute of Clinical Medicine, University of Tartu, 2 L.Puusepa street, Tartu 51014, Estonia.
  • Schema L; University of Minnesota-Fairview, Minneapolis, MN 55454, USA.
  • Chiocchetti AG; Department of Child and Adolescent Psychiatry, Psychosomatics and Psychotherapy, JW Goethe University Frankfurt, Deutschordenstraße 50, Frankfurt am Main 60528, Germany.
  • McDonald M; Division of Medical Genetics, Department of Pediatrics, Duke University, Durham, NC 27710, USA.
  • de Bellescize J; Epilepsy, Sleep and Pediatric Neurophysiology Department, Hospices Civils, Lyon, 69677 Bron, France.
  • Vincent M; Service de Génétique Médicale, CHU Nantes, 9 quai Moncousu, 44093 Nantes Cedex 1, France; l'institut du thorax, INSERM, CNRS, UNIV Nantes, 44007 Nantes, France.
  • Van Esch H; Center for Human Genetics, University Hospitals Leuven, Herestraat 49, 3000 Leuven, Belgium.
  • Sattler S; Carle Physician Group, Urbana, IL 61801, USA.
  • Forghani I; Dr. John T. Macdonald Foundation Department of Human Genetics, University of Miami, Miller School of Medicine, 1501 NW 10th Avenue, BRB, room 359 (M-860), Miami, FL 33136, USA.
  • Thiffault I; Center for Pediatric Genomic Medicine, Children's Mercy Hospital, Kansas City, MO 64108, USA; Department of Pathology and Laboratory Medicine, Children's Mercy Hospital, Kansas City, MO 64108, USA; University of Missouri Kansas City, School of Medicine, Kansas City, MO 64108, USA.
  • Freitag CM; Department of Child and Adolescent Psychiatry, Psychosomatics and Psychotherapy, JW Goethe University Frankfurt, Deutschordenstraße 50, Frankfurt am Main 60528, Germany.
  • Barbouth DS; Dr. John T. Macdonald Foundation Department of Human Genetics, University of Miami, Miller School of Medicine, 1501 NW 10th Avenue, BRB, room 359 (M-860), Miami, FL 33136, USA.
  • Cadieux-Dion M; Center for Pediatric Genomic Medicine, Children's Mercy Hospital, Kansas City, MO 64108, USA.
  • Willaert R; GeneDx, 207 Perry Parkway, Gaithersburg, MD 20877, USA.
  • Guillen Sacoto MJ; GeneDx, 207 Perry Parkway, Gaithersburg, MD 20877, USA.
  • Safina NP; University of Missouri Kansas City, School of Medicine, Kansas City, MO 64108, USA; Division of Clinical Genetics, Children's Mercy Hospital, Kansas City, MO 64108, USA; Department of Pediatrics, Children's Mercy Hospital, Kansas City, MO 64108, USA.
  • Dubourg C; Laboratoire de Génétique Moléculaire & Génomique, CHU de Rennes, 35033 Rennes, France.
  • Grote L; University of Missouri Kansas City, School of Medicine, Kansas City, MO 64108, USA; Division of Clinical Genetics, Children's Mercy Hospital, Kansas City, MO 64108, USA; Department of Pediatrics, Children's Mercy Hospital, Kansas City, MO 64108, USA.
  • Carré W; Laboratoire de Génétique Moléculaire & Génomique, CHU de Rennes, 35033 Rennes, France.
  • Saunders C; Center for Pediatric Genomic Medicine, Children's Mercy Hospital, Kansas City, MO 64108, USA; Department of Pathology and Laboratory Medicine, Children's Mercy Hospital, Kansas City, MO 64108, USA; University of Missouri Kansas City, School of Medicine, Kansas City, MO 64108, USA.
  • Pajusalu S; Department of Clinical Genetics, United Laboratories, Tartu University Hospital and Institute of Clinical Medicine, University of Tartu, 2 L.Puusepa street, Tartu 51014, Estonia.
  • Farrow E; Center for Pediatric Genomic Medicine, Children's Mercy Hospital, Kansas City, MO 64108, USA; University of Missouri Kansas City, School of Medicine, Kansas City, MO 64108, USA; Division of Clinical Genetics, Children's Mercy Hospital, Kansas City, MO 64108, USA.
  • Boland A; Centre National de Recherche en Génomique Humaine (CNRGH), Institut de Biologie François Jacob, DRF, CEA, Evry, France.
  • Karlowicz DH; Division of Medical Genetics, Department of Pediatrics, Duke University, Durham, NC 27710, USA.
  • Deleuze JF; Centre National de Recherche en Génomique Humaine (CNRGH), Institut de Biologie François Jacob, DRF, CEA, Evry, France.
  • Wojcik MH; The Broad Institute of MIT and Harvard, Cambridge, MA 02142, USA.
  • Pressman R; Dr. John T. Macdonald Foundation Department of Human Genetics, University of Miami, Miller School of Medicine, 1501 NW 10th Avenue, BRB, room 359 (M-860), Miami, FL 33136, USA.
  • Isidor B; Service de Génétique Médicale, CHU Nantes, 9 quai Moncousu, 44093 Nantes Cedex 1, France; l'institut du thorax, INSERM, CNRS, UNIV Nantes, 44007 Nantes, France.
  • Vogels A; Center for Human Genetics, University Hospitals Leuven, Herestraat 49, 3000 Leuven, Belgium.
  • Van Paesschen W; Department of Neurology, University Hospitals Leuven, Herestraat 49, 3000 Leuven, Belgium.
  • Al-Gazali L; Department of Paediatrics, College of Medicine and Health Sciences, United Arab Emirates University, PO Box 17666, Al Ain, United Arab Emirates.
  • Al Shamsi AM; Department of Paediatrics, Tawam Hospital, PO Box 15258, Al-Ain, United Arab Emirates.
  • Claustres M; EA7402 Institut Universitaire de Recherche Clinique, and Laboratoire de Génétique Moléculaire, CHU and Université de Montpellier, 34093 Montpellier, France.
  • Pujol A; Neurometabolic Diseases Laboratory, IDIBELL, Gran Via, 199, L'Hospitalet de Llobregat, 08908 Barcelona, and CIBERER U759, Center for Biomedical Research on Rare Diseases, 08908 Barcelona, Spain, Catalan Institution of Research and Advanced Studies (ICREA), 08010 Barcelona, Spain.
  • Sanders SJ; Department of Psychiatry, UCSF Weill Institute for Neurosciences, University of California, San Francisco, San Francisco, CA 94158, USA.
  • Rivier F; Department of Neuropaediatrics and CR Maladies Neuromusculaires, CHU Montpellier, PhyMedExp, INSERM, CNRS, University of Montpellier, Montpellier, France.
  • Leboucq N; Neuroradiologie, CHU de Montpellier, 34090 Montpellier, France.
  • Cogné B; Service de Génétique Médicale, CHU Nantes, 9 quai Moncousu, 44093 Nantes Cedex 1, France; l'institut du thorax, INSERM, CNRS, UNIV Nantes, 44007 Nantes, France.
  • Sasorith S; EA7402 Institut Universitaire de Recherche Clinique, and Laboratoire de Génétique Moléculaire, CHU and Université de Montpellier, 34093 Montpellier, France.
Am J Hum Genet ; 102(5): 744-759, 2018 05 03.
Article en En | MEDLINE | ID: mdl-29656859
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Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Trastorno Autístico / Ataxia Cerebelosa / Mutación Missense / Miembro 1 del Grupo F de la Subfamilia 1 de Receptores Nucleares / Genes Dominantes / Discapacidad Intelectual Tipo de estudio: Clinical_trials / Prognostic_studies Límite: Adolescent / Adult / Aged80 / Animals / Child / Child, preschool / Female / Humans / Male / Middle aged Idioma: En Año: 2018 Tipo del documento: Article
Texto completo
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Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Trastorno Autístico / Ataxia Cerebelosa / Mutación Missense / Miembro 1 del Grupo F de la Subfamilia 1 de Receptores Nucleares / Genes Dominantes / Discapacidad Intelectual Tipo de estudio: Clinical_trials / Prognostic_studies Límite: Adolescent / Adult / Aged80 / Animals / Child / Child, preschool / Female / Humans / Male / Middle aged Idioma: En Año: 2018 Tipo del documento: Article