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De Novo Mutations in SON Disrupt RNA Splicing of Genes Essential for Brain Development and Metabolism, Causing an Intellectual-Disability Syndrome.
Kim, Jung-Hyun; Shinde, Deepali N; Reijnders, Margot R F; Hauser, Natalie S; Belmonte, Rebecca L; Wilson, Gregory R; Bosch, Daniëlle G M; Bubulya, Paula A; Shashi, Vandana; Petrovski, Slavé; Stone, Joshua K; Park, Eun Young; Veltman, Joris A; Sinnema, Margje; Stumpel, Connie T R M; Draaisma, Jos M; Nicolai, Joost; Yntema, Helger G; Lindstrom, Kristin; de Vries, Bert B A; Jewett, Tamison; Santoro, Stephanie L; Vogt, Julie; Bachman, Kristine K; Seeley, Andrea H; Krokosky, Alyson; Turner, Clesson; Rohena, Luis; Hempel, Maja; Kortüm, Fanny; Lessel, Davor; Neu, Axel; Strom, Tim M; Wieczorek, Dagmar; Bramswig, Nuria; Laccone, Franco A; Behunova, Jana; Rehder, Helga; Gordon, Christopher T; Rio, Marlène; Romana, Serge; Tang, Sha; El-Khechen, Dima; Cho, Megan T; McWalter, Kirsty; Douglas, Ganka; Baskin, Berivan; Begtrup, Amber; Funari, Tara; Schoch, Kelly.
Afiliação
  • Kim JH; Mitchell Cancer Institute, University of South Alabama, Mobile, AL 36604, USA.
  • Shinde DN; Ambry Genetics, Aliso Viejo, CA 92656, USA.
  • Reijnders MRF; Department of Human Genetics, Donders Institute for Brain, Cognition, and Behaviour, Radboud University Medical Center, 6500 HB Nijmegen, the Netherlands.
  • Hauser NS; Medical Genetics and Metabolism, Valley Children's Hospital, Madera, CA 93636, USA.
  • Belmonte RL; Department of Biological Sciences, California State University, Chico, Chico, CA 95929, USA.
  • Wilson GR; Department of Biological Sciences, California State University, Chico, Chico, CA 95929, USA.
  • Bosch DGM; Department of Human Genetics, Donders Institute for Brain, Cognition, and Behaviour, Radboud University Medical Center, 6500 HB Nijmegen, the Netherlands.
  • Bubulya PA; Department of Biological Sciences, Wright State University, Dayton, OH 45435, USA.
  • Shashi V; Division of Medical Genetics, Department of Pediatrics, Duke University School of Medicine, Durham, NC 27710, USA.
  • Petrovski S; Department of Medicine, University of Melbourne, Austin Hospital and Royal Melbourne Hospital, Parkville, VIC 3010, Australia; Institute for Genomic Medicine, Columbia University, New York, NY 10027, USA.
  • Stone JK; Mitchell Cancer Institute, University of South Alabama, Mobile, AL 36604, USA.
  • Park EY; Mitchell Cancer Institute, University of South Alabama, Mobile, AL 36604, USA.
  • Veltman JA; Department of Human Genetics, Donders Institute for Brain, Cognition, and Behaviour, Radboud University Medical Center, 6500 HB Nijmegen, the Netherlands; Department of Clinical Genetics and School for Oncology & Developmental Biology (GROW), Maastricht University Medical Center, 6202 AZ Maastri
  • Sinnema M; Department of Clinical Genetics and School for Oncology & Developmental Biology (GROW), Maastricht University Medical Center, 6202 AZ Maastricht, the Netherlands.
  • Stumpel CTRM; Department of Clinical Genetics and School for Oncology & Developmental Biology (GROW), Maastricht University Medical Center, 6202 AZ Maastricht, the Netherlands.
  • Draaisma JM; Department of Pediatrics, Radboudumc Amalia Children's Hospital, 6500 HB Nijmegen, the Netherlands.
  • Nicolai J; Department of Neurology, Maastricht University Medical Center, 6299 HX Maastricht, the Netherlands.
  • Yntema HG; Department of Human Genetics, Donders Institute for Brain, Cognition, and Behaviour, Radboud University Medical Center, 6500 HB Nijmegen, the Netherlands.
  • Lindstrom K; Division of Genetics and Metabolism, Phoenix Children's Hospital, Phoenix, AZ 85016, USA.
  • de Vries BBA; Department of Human Genetics, Donders Institute for Brain, Cognition, and Behaviour, Radboud University Medical Center, 6500 HB Nijmegen, the Netherlands.
  • Jewett T; Section on Medical Genetics, Department of Pediatrics, Wake Forest School of Medicine, Winston-Salem, NC 27157, USA.
  • Santoro SL; Nationwide Children's Hospital, Columbus, OH 43205, USA; Ohio State University College of Medicine, Columbus, OH 43210, USA.
  • Vogt J; West Midlands Regional Genetics Service, Birmingham Women's NHS Foundation Trust, Birmingham B15 2TG, UK.
  • Bachman KK; Geisinger Medical Center, Danville, PA 17822, USA.
  • Seeley AH; Geisinger Medical Center, Danville, PA 17822, USA.
  • Krokosky A; Division of Genetics, Department of Pediatrics, Walter Reed National Military Medical Center, Bethesda, MD 20889, USA.
  • Turner C; Division of Genetics, Department of Pediatrics, Walter Reed National Military Medical Center, Bethesda, MD 20889, USA.
  • Rohena L; Division of Genetics, Department of Pediatrics, San Antonio Military Medical Center, Fort Sam Houston, TX 78234, USA; Department of Pediatrics, University of Texas Health Science Center at San Antonio, San Antonio, TX 78229, USA.
  • Hempel M; Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, 20246 Hamburg, Germany.
  • Kortüm F; Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, 20246 Hamburg, Germany.
  • Lessel D; Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, 20246 Hamburg, Germany.
  • Neu A; Department of Pediatrics, University Medical Center Hamburg-Eppendorf, 20246 Hamburg, Germany.
  • Strom TM; Institute of Human Genetics, Helmholtz Zentrum München, 85764 Neuherberg, Germany; Institute of Human Genetics, Technical University of Munich, 81675 Munich, Germany.
  • Wieczorek D; Institute of Human Genetics, University Clinic Düsseldorf, Heinrich-Heine-University, 40225 Düsseldorf, Germany; Institute of Human Genetics, University Clinic Essen, University Duisburg-Essen, 45147 Essen, Germany.
  • Bramswig N; Institute of Human Genetics, University Clinic Essen, University Duisburg-Essen, 45147 Essen, Germany.
  • Laccone FA; Institute of Medical Genetics, Medical University of Vienna, Waehringer Strasse 10, 1090 Vienna, Austria.
  • Behunova J; Institute of Medical Genetics, Medical University of Vienna, Waehringer Strasse 10, 1090 Vienna, Austria.
  • Rehder H; Institute of Medical Genetics, Medical University of Vienna, Waehringer Strasse 10, 1090 Vienna, Austria.
  • Gordon CT; Laboratory of Embryology and Genetics of Congenital Malformations, INSERM UMR 1163, Institut Imagine, 75015 Paris, France; Université Paris Descartes, Sorbonne Paris Cité, Institut Imagine, 75015 Paris, France.
  • Rio M; Département de Génétique, Hôpital Necker-Enfants Malades, 75015 Paris, France.
  • Romana S; Service de Cytogénétique, Hôpital Necker-Enfants Malades, 75015 Paris, France; Paris Descartes-Sorbonne Paris Cité University, Institut Imagine, 75015 Paris, France.
  • Tang S; Ambry Genetics, Aliso Viejo, CA 92656, USA.
  • El-Khechen D; Ambry Genetics, Aliso Viejo, CA 92656, USA.
  • Cho MT; GeneDx Inc., 205 Perry Parkway, Gaithersburg, MD 20877, USA.
  • McWalter K; GeneDx Inc., 205 Perry Parkway, Gaithersburg, MD 20877, USA.
  • Douglas G; GeneDx Inc., 205 Perry Parkway, Gaithersburg, MD 20877, USA.
  • Baskin B; GeneDx Inc., 205 Perry Parkway, Gaithersburg, MD 20877, USA.
  • Begtrup A; GeneDx Inc., 205 Perry Parkway, Gaithersburg, MD 20877, USA.
  • Funari T; GeneDx Inc., 205 Perry Parkway, Gaithersburg, MD 20877, USA.
  • Schoch K; Division of Medical Genetics, Department of Pediatrics, Duke University School of Medicine, Durham, NC 27710, USA.
Am J Hum Genet ; 99(3): 711-719, 2016 09 01.
Article em En | MEDLINE | ID: mdl-27545680
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Encéfalo / Antígenos de Histocompatibilidade Menor / Splicing de RNA / Genes Essenciais / Proteínas de Ligação a DNA / Deficiência Intelectual / Mutação Limite: Animals / Female / Humans / Male Idioma: En Revista: Am J Hum Genet Ano de publicação: 2016 Tipo de documento: Article País de afiliação: Estados Unidos
Texto completo
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XML
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Encéfalo / Antígenos de Histocompatibilidade Menor / Splicing de RNA / Genes Essenciais / Proteínas de Ligação a DNA / Deficiência Intelectual / Mutação Limite: Animals / Female / Humans / Male Idioma: En Revista: Am J Hum Genet Ano de publicação: 2016 Tipo de documento: Article País de afiliação: Estados Unidos