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Research Article

Genetic and Functional Analyses of SHANK2 Mutations Suggest a Multiple Hit Model of Autism Spectrum Disorders

  • Claire S. Leblond,

    Affiliations: Human Genetics and Cognitive Functions, Institut Pasteur, Paris, France, CNRS URA 2182 “Genes, synapses and cognition,” Institut Pasteur, Paris, France, University Denis Diderot Paris 7, Paris, France

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  • Jutta Heinrich,

    Affiliation: Institute of Anatomy and Cell Biology, Ulm University, Ulm, Germany

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  • Richard Delorme,

    Affiliations: Human Genetics and Cognitive Functions, Institut Pasteur, Paris, France, CNRS URA 2182 “Genes, synapses and cognition,” Institut Pasteur, Paris, France, Assistance Publique-Hôpitaux de Paris, Robert Debré Hospital, Department of Child and Adolescent Psychiatry, Paris, France

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  • Christian Proepper,

    Affiliation: Institute of Anatomy and Cell Biology, Ulm University, Ulm, Germany

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  • Catalina Betancur,

    Affiliations: INSERM, U952, Paris, France, CNRS, UMR 7224, Paris, France, UPMC Univ Paris 06, Paris, France

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  • Guillaume Huguet,

    Affiliations: Human Genetics and Cognitive Functions, Institut Pasteur, Paris, France, CNRS URA 2182 “Genes, synapses and cognition,” Institut Pasteur, Paris, France, University Denis Diderot Paris 7, Paris, France

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  • Marina Konyukh,

    Affiliations: Human Genetics and Cognitive Functions, Institut Pasteur, Paris, France, CNRS URA 2182 “Genes, synapses and cognition,” Institut Pasteur, Paris, France, University Denis Diderot Paris 7, Paris, France

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  • Pauline Chaste,

    Affiliations: Human Genetics and Cognitive Functions, Institut Pasteur, Paris, France, CNRS URA 2182 “Genes, synapses and cognition,” Institut Pasteur, Paris, France, University Denis Diderot Paris 7, Paris, France

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  • Elodie Ey,

    Affiliations: Human Genetics and Cognitive Functions, Institut Pasteur, Paris, France, CNRS URA 2182 “Genes, synapses and cognition,” Institut Pasteur, Paris, France, University Denis Diderot Paris 7, Paris, France

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  • Maria Rastam,

    Affiliation: Department of Clinical Sciences in Lund, Lund University, Lund, Sweden

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  • Henrik Anckarsäter,

    Affiliation: Institute of Clinical Sciences, Lund University, Malmö, Sweden

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  • Gudrun Nygren,

    Affiliation: Gillberg Neuropsychiatry Centre, University of Gothenburg, Göteborg, Sweden

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  • I. Carina Gillberg,

    Affiliation: Gillberg Neuropsychiatry Centre, University of Gothenburg, Göteborg, Sweden

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  • Jonas Melke,

    Affiliation: Institute of Neuroscience and Physiology, Department of Pharmacology, Gothenburg University, Göteborg, Sweden

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  • Roberto Toro,

    Affiliations: Human Genetics and Cognitive Functions, Institut Pasteur, Paris, France, CNRS URA 2182 “Genes, synapses and cognition,” Institut Pasteur, Paris, France, University Denis Diderot Paris 7, Paris, France

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  • Beatrice Regnault,

    Affiliation: Eukaryote Genotyping Platform, Genopole, Institut Pasteur, Paris, France

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  • Fabien Fauchereau,

    Affiliations: Human Genetics and Cognitive Functions, Institut Pasteur, Paris, France, CNRS URA 2182 “Genes, synapses and cognition,” Institut Pasteur, Paris, France, University Denis Diderot Paris 7, Paris, France

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  • Oriane Mercati,

    Affiliations: Human Genetics and Cognitive Functions, Institut Pasteur, Paris, France, CNRS URA 2182 “Genes, synapses and cognition,” Institut Pasteur, Paris, France, University Denis Diderot Paris 7, Paris, France

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  • Nathalie Lemière,

    Affiliations: Human Genetics and Cognitive Functions, Institut Pasteur, Paris, France, CNRS URA 2182 “Genes, synapses and cognition,” Institut Pasteur, Paris, France, University Denis Diderot Paris 7, Paris, France

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  • David Skuse,

    Affiliation: Behavioural and Brain Sciences Unit, Institute of Child Health, University College London, London, United Kingdom

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  • Martin Poot,

    Affiliation: Department of Medical Genetics, University Medical Center Utrecht, Utrecht, The Netherlands

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  • Richard Holt,

    Affiliation: Wellcome Trust Centre for Human Genetics, University of Oxford, Oxford, United Kingdom

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  • Anthony P. Monaco,

    Affiliation: Wellcome Trust Centre for Human Genetics, University of Oxford, Oxford, United Kingdom

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  • Irma Järvelä,

    Affiliation: Department of Medical Genetics, University of Helsinki, Helsinki, Finland

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  • Katri Kantojärvi,

    Affiliation: Department of Medical Genetics, University of Helsinki, Helsinki, Finland

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  • Raija Vanhala,

    Affiliation: Department of Medical Genetics, University of Helsinki, Helsinki, Finland

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  • Sarah Curran,

    Affiliation: Academic Department of Child and Adolescent Psychiatry, Institute of Psychiatry, King's College London, London, United Kingdom

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  • David A. Collier,

    Affiliation: Social Genetic Developmental Psychiatry Centre, Institute of Psychiatry, King's College London, London, United Kingdom

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  • Patrick Bolton,

    Affiliations: Academic Department of Child and Adolescent Psychiatry, Institute of Psychiatry, King's College London, London, United Kingdom, Social Genetic Developmental Psychiatry Centre, Institute of Psychiatry, King's College London, London, United Kingdom

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  • Andreas Chiocchetti,

    Affiliation: Division of Molecular Genome Analysis, German Cancer Research Center (DKFZ), Heidelberg, Germany

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  • Sabine M. Klauck,

    Affiliation: Division of Molecular Genome Analysis, German Cancer Research Center (DKFZ), Heidelberg, Germany

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  • Fritz Poustka,

    Affiliation: Department of Child and Adolescent Psychiatry, Psychosomatics and Psychotherapy, Goethe University, Frankfurt am Main, Germany

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  • Christine M. Freitag,

    Affiliation: Department of Child and Adolescent Psychiatry, Psychosomatics and Psychotherapy, Goethe University, Frankfurt am Main, Germany

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  • Regina Waltes,

    Affiliation: Department of Child and Adolescent Psychiatry, Psychosomatics and Psychotherapy, Goethe University, Frankfurt am Main, Germany

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  • Marnie Kopp,

    Affiliation: Department of Child and Adolescent Psychiatry, Psychosomatics and Psychotherapy, Goethe University, Frankfurt am Main, Germany

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  • Eftichia Duketis,

    Affiliation: Department of Child and Adolescent Psychiatry, Psychosomatics and Psychotherapy, Goethe University, Frankfurt am Main, Germany

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  • Elena Bacchelli,

    Affiliation: Department of Biology, University of Bologna, Bologna, Italy

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  • Fiorella Minopoli,

    Affiliation: Department of Biology, University of Bologna, Bologna, Italy

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  • Liliana Ruta,

    Affiliation: Division of Child Neurology and Psychiatry, Department of Paediatrics, University of Catania, Catania, Italy

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  • Agatino Battaglia,

    Affiliation: Stella Maris Clinical Research Institute for Child and Adolescent Neuropsychiatry, Pisa, Italy

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  • Luigi Mazzone,

    Affiliation: Division of Child Neurology and Psychiatry, Department of Pediatrics, University of Catania, Catania, Italy

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  • Elena Maestrini,

    Affiliation: Department of Biology, University of Bologna, Bologna, Italy

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  • Ana F. Sequeira,

    Affiliations: Instituto Nacional de Saude Dr Ricardo Jorge, Lisbon, Portugal, Instituto Gulbenkian de Ciencia, Oeiras, Portugal, Center for Biodiversity, Functional and Integrative Genomics, Faculdade de Ciências da Universidade de Lisboa, Lisboa, Portugal

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  • Barbara Oliveira,

    Affiliations: Instituto Nacional de Saude Dr Ricardo Jorge, Lisbon, Portugal, Instituto Gulbenkian de Ciencia, Oeiras, Portugal, Center for Biodiversity, Functional and Integrative Genomics, Faculdade de Ciências da Universidade de Lisboa, Lisboa, Portugal

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  • Astrid Vicente,

    Affiliations: Instituto Nacional de Saude Dr Ricardo Jorge, Lisbon, Portugal, Instituto Gulbenkian de Ciencia, Oeiras, Portugal, Center for Biodiversity, Functional and Integrative Genomics, Faculdade de Ciências da Universidade de Lisboa, Lisboa, Portugal

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  • Guiomar Oliveira,

    Affiliation: Unidade Neurodesenvolvimento e Autismo, Centro Investigação e Formação Clinica, Hospital Pediátrico Coimbra e Faculdade Medicina, Universidade Coimbra, Coimbra, Portugal

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  • Dalila Pinto,

    Affiliation: The Centre for Applied Genomics and Program in Genetics and Genomic Biology, The Hospital for Sick Children, Toronto, Canada

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  • Stephen W. Scherer,

    Affiliation: The Centre for Applied Genomics and Program in Genetics and Genomic Biology, The Hospital for Sick Children, Toronto, Canada

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  • Diana Zelenika,

    Affiliation: Centre National de Génotypage, Evry, France

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  • Marc Delepine,

    Affiliation: Centre National de Génotypage, Evry, France

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  • Mark Lathrop,

    Affiliation: Centre National de Génotypage, Evry, France

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  • Dominique Bonneau,

    Affiliations: INSERM U771 and CNRS 6214, Angers, France, Département de Biochimie et Génétique, Centre Hospitalier Universitaire, Angers, France

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  • Vincent Guinchat,

    Affiliation: CADIPA–Centre de Ressources Autisme Rhône-Alpes, Saint Egrève, France

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  • Françoise Devillard,

    Affiliation: Genetics Department, Hôpital Couple-Enfant, Grenoble, France

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  • Brigitte Assouline,

    Affiliation: CADIPA–Centre de Ressources Autisme Rhône-Alpes, Saint Egrève, France

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  • Marie-Christine Mouren,

    Affiliation: Assistance Publique-Hôpitaux de Paris, Robert Debré Hospital, Department of Child and Adolescent Psychiatry, Paris, France

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  • Marion Leboyer,

    Affiliations: INSERM, U955, Psychiatrie Génétique, Créteil, France, Université Paris Est, Faculté de Médecine, Créteil, France, AP-HP, Hôpital H. Mondor–A. Chenevier, Département de Psychiatrie, Créteil, France

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  • Christopher Gillberg,

    Affiliations: Gillberg Neuropsychiatry Centre, University of Gothenburg, Göteborg, Sweden, Institute of Child Health, University College London, London, United Kingdom

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  • Tobias M. Boeckers,

    Affiliation: Institute of Anatomy and Cell Biology, Ulm University, Ulm, Germany

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  • Thomas Bourgeron mail

    thomasb@pasteur.fr

    Affiliations: Human Genetics and Cognitive Functions, Institut Pasteur, Paris, France, CNRS URA 2182 “Genes, synapses and cognition,” Institut Pasteur, Paris, France, University Denis Diderot Paris 7, Paris, France

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  • Published: February 09, 2012
  • DOI: 10.1371/journal.pgen.1002521

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