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Open Access
Peer-reviewed
Research Article
Genetic and Functional Analyses of SHANK2 Mutations Suggest a Multiple Hit Model of Autism Spectrum Disorders
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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
* E-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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Genetic and Functional Analyses of SHANK2 Mutations Suggest a Multiple Hit Model of Autism Spectrum Disorders
- Claire S. Leblond,
- Jutta Heinrich,
- Richard Delorme,
- Christian Proepper,
- Catalina Betancur,
- Guillaume Huguet,
- Marina Konyukh,
- Pauline Chaste,
- Elodie Ey,
- Maria Rastam
- Published: February 9, 2012
- https://doi.org/10.1371/journal.pgen.1002521