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  • GATAD2B loss-of-function mutations cause a recognisable syndrome with intellectual disability and are associated with learning deficits and synaptic undergrowth in Drosophila

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Original article
GATAD2B loss-of-function mutations cause a recognisable syndrome with intellectual disability and are associated with learning deficits and synaptic undergrowth in Drosophila
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Authors

  • Marjolein H Willemsen Department of Human Genetics, Radboud University Medical Centre, Nijmegen, The Netherlands PubMed articlesGoogle scholar articles
  • Bonnie Nijhof Department of Human Genetics, Radboud University Medical Centre, Nijmegen, The Netherlands Nijmegen Center for Molecular Life Sciences, Radboud University Medical Centre, Nijmegen, The Netherlands Donders Institute for Brain, Cognition and Behavior, Radboud University Medical Centre, Nijmegen, The Netherlands PubMed articlesGoogle scholar articles
  • Michaela Fenckova Department of Human Genetics, Radboud University Medical Centre, Nijmegen, The Netherlands Nijmegen Center for Molecular Life Sciences, Radboud University Medical Centre, Nijmegen, The Netherlands Donders Institute for Brain, Cognition and Behavior, Radboud University Medical Centre, Nijmegen, The Netherlands PubMed articlesGoogle scholar articles
  • Willy M Nillesen Department of Human Genetics, Radboud University Medical Centre, Nijmegen, The Netherlands PubMed articlesGoogle scholar articles
  • Ernie M H F Bongers Department of Human Genetics, Radboud University Medical Centre, Nijmegen, The Netherlands PubMed articlesGoogle scholar articles
  • Anna Castells-Nobau Department of Human Genetics, Radboud University Medical Centre, Nijmegen, The Netherlands Nijmegen Center for Molecular Life Sciences, Radboud University Medical Centre, Nijmegen, The Netherlands Donders Institute for Brain, Cognition and Behavior, Radboud University Medical Centre, Nijmegen, The Netherlands PubMed articlesGoogle scholar articles
  • Lenke Asztalos Department of Genetics, Aktogen, University of Cambridge, Cambrigde, UK PubMed articlesGoogle scholar articles
  • Erika Viragh Institute of Biochemistry, Biological Research Center, Hungarian Academy of Sciences, Szeged, Hungary PubMed articlesGoogle scholar articles
  • Bregje W M van Bon Department of Human Genetics, Radboud University Medical Centre, Nijmegen, The Netherlands PubMed articlesGoogle scholar articles
  • Emre Tezel Department of Human Genetics, Radboud University Medical Centre, Nijmegen, The Netherlands Nijmegen Center for Molecular Life Sciences, Radboud University Medical Centre, Nijmegen, The Netherlands Donders Institute for Brain, Cognition and Behavior, Radboud University Medical Centre, Nijmegen, The Netherlands PubMed articlesGoogle scholar articles
  • Joris A Veltman Department of Human Genetics, Radboud University Medical Centre, Nijmegen, The Netherlands Nijmegen Center for Molecular Life Sciences, Radboud University Medical Centre, Nijmegen, The Netherlands Institute for Genetic and Metabolic Disease, Radboud University Medical Centre, Nijmegen, The Netherlands PubMed articlesGoogle scholar articles
  • Han G Brunner Department of Human Genetics, Radboud University Medical Centre, Nijmegen, The Netherlands Institute for Genetic and Metabolic Disease, Radboud University Medical Centre, Nijmegen, The Netherlands PubMed articlesGoogle scholar articles
  • Bert B A de Vries Department of Human Genetics, Radboud University Medical Centre, Nijmegen, The Netherlands Institute for Genetic and Metabolic Disease, Radboud University Medical Centre, Nijmegen, The Netherlands PubMed articlesGoogle scholar articles
  • Joep de Ligt Department of Human Genetics, Radboud University Medical Centre, Nijmegen, The Netherlands Nijmegen Center for Molecular Life Sciences, Radboud University Medical Centre, Nijmegen, The Netherlands Institute for Genetic and Metabolic Disease, Radboud University Medical Centre, Nijmegen, The Netherlands PubMed articlesGoogle scholar articles
  • Helger G Yntema Department of Human Genetics, Radboud University Medical Centre, Nijmegen, The Netherlands PubMed articlesGoogle scholar articles
  • Hans van Bokhoven Department of Human Genetics, Radboud University Medical Centre, Nijmegen, The Netherlands Nijmegen Center for Molecular Life Sciences, Radboud University Medical Centre, Nijmegen, The Netherlands Donders Institute for Brain, Cognition and Behavior, Radboud University Medical Centre, Nijmegen, The Netherlands PubMed articlesGoogle scholar articles
  • Bertrand Isidor Service de Génétique Médicale, CHU Nantes, Nantes, France PubMed articlesGoogle scholar articles
  • Cédric Le Caignec Service de Génétique Médicale, CHU Nantes, Nantes, France PubMed articlesGoogle scholar articles
  • Elsa Lorino Service de Pédiatrie, CHU Nantes, Nantes, France PubMed articlesGoogle scholar articles
  • Zoltan Asztalos Department of Genetics, Aktogen, University of Cambridge, Cambrigde, UK Institute of Biochemistry, Biological Research Center, Hungarian Academy of Sciences, Szeged, Hungary Aktogen Hungary Ltd., Biological Research Center, Hungarian Academy of Sciences, Szeged, Hungary PubMed articlesGoogle scholar articles
  • David A Koolen Department of Human Genetics, Radboud University Medical Centre, Nijmegen, The Netherlands PubMed articlesGoogle scholar articles
  • Lisenka E L M Vissers Department of Human Genetics, Radboud University Medical Centre, Nijmegen, The Netherlands Nijmegen Center for Molecular Life Sciences, Radboud University Medical Centre, Nijmegen, The Netherlands Institute for Genetic and Metabolic Disease, Radboud University Medical Centre, Nijmegen, The Netherlands PubMed articlesGoogle scholar articles
  • Annette Schenck Department of Human Genetics, Radboud University Medical Centre, Nijmegen, The Netherlands Nijmegen Center for Molecular Life Sciences, Radboud University Medical Centre, Nijmegen, The Netherlands Donders Institute for Brain, Cognition and Behavior, Radboud University Medical Centre, Nijmegen, The Netherlands PubMed articlesGoogle scholar articles
  • Tjitske Kleefstra Department of Human Genetics, Radboud University Medical Centre, Nijmegen, The Netherlands Donders Institute for Brain, Cognition and Behavior, Radboud University Medical Centre, Nijmegen, The Netherlands Institute for Genetic and Metabolic Disease, Radboud University Medical Centre, Nijmegen, The Netherlands PubMed articlesGoogle scholar articles
  1. Correspondence to Dr Tjitske Kleefstra and Dr Annette Schenck, Department of Human Genetics, Radboud University Medical Centre, PO Box 9101, Nijmegen 6500 HB, The Netherlands; t.kleefstra{at}gen.umcn.nl; a.schenck{at}gen.umcn.nl
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Citation

Willemsen MH, Nijhof B, Fenckova M, et al
GATAD2B loss-of-function mutations cause a recognisable syndrome with intellectual disability and are associated with learning deficits and synaptic undergrowth in Drosophila
Journal of Medical Genetics 2013;50:507-514.

Publication history

  • Received December 19, 2012
  • Revised March 28, 2013
  • Accepted April 8, 2013
  • First published May 4, 2013.
Online issue publication 
November 10, 2016

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