Mutations in the gene encoding the synaptic scaffolding protein SHANK3 are associated with autism spectrum disorders (original) (raw)

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Acknowledgements

We thank the affected individuals and their families for participating in this study and all the collaborators of the Paris Autism Research International Sibpair Study: C. Gillberg, M. Råstam, I.C. Gillberg, G. Nygren, H. Anckarsäter and O. Ståhlberg (Department of Child and Adolescent Psychiatry, Göteborg University); M. Leboyer (Department of Psychiatry, Groupe Hospitalier Albert Chenevier et Henri Mondor); C. Betancur (INSERM U513, Université Paris XII); C. Colineaux, D. Cohen, N. Chabane and M.-C. Mouren-Siméoni (Service de Psychopathologie de l'Enfant et l'Adolescent, Hôpital Robert Debré); A. Brice (INSERM U679, Hôpital Pitié-Salpêtrière); E. Sponheim (Centre for Child and Adolescent Psychiatry, University of Oslo); O.H. Skjeldal (Department of Pediatrics, Rikshospitalet, University of Oslo); M. Coleman (Department of Pediatrics, Georgetown University School of Medicine); P.L. Pearl (Children's National Medical Center, George Washington University School of Medicine); I.L. Cohen and J. Tsiouris (New York State Institute for Basic Research in Developmental Disabilities); Michele Zappella (Divisione di Neuropsichiatria Infantile, Azienda Ospedaliera Senese); H. Aschauer (Department of General Psychiatry, University Hospital, Vienna) and L. Van Maldergem (Centre de Génétique Humaine, Institut de Pathologie et de Génétique). We also thank the DNA and cell bank of INSERM U679 (IFR des Neurosciences, Hôpital Pitié-Salpêtrière); the Centre d'Investigations Cliniques of the Hôpital Robert Debré; C. Bouchier and S. Duthoy for the use of sequencing facilities at the Génopole Pasteur and A. Hchikat, L. Margarit and G. Rouffet for technical assistance. This work was supported by the Pasteur Institute, INSERM, Assistance Publique-Hôpitaux de Paris, Fondation France Télécom, Cure Autism Now, Fondation de France, Fondation Biomédicale de la Mairie de Paris, Fondation pour la Recherche Médicale, EUSynapse European Commission FP6, AUTISM MOLGEN European Commission FP6, Fondation NRJ, the Swedish Science Council and the Deutsche Forschungsgemeinschaft DFG, SFB 497.

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Authors and Affiliations

1. Human Genetics and Cognitive Functions, Institut Pasteur, Paris, France
   Christelle M Durand, Pauline Chaste, Fabien Fauchereau, Hany Goubran-Botros, Richard Delorme & Thomas Bourgeron
2. INSERM U513, Université Paris XII, Créteil, France
   Catalina Betancur & Marion Leboyer
3. Institute for Anatomy and Cell Biology, Ulm University, Ulm, Germany
   Tobias M Boeckers & Juergen Bockmann
4. University Denis Diderot Paris 7, Paris, France
   Fabien Fauchereau & Thomas Bourgeron
5. Department of Child and Adolescent Psychiatry, Göteborg University, Göteborg, Sweden
   Gudrun Nygren, Maria Rastam, I Carina Gillberg, Henrik Anckarsäter & Christopher Gillberg
6. Centre for Child and Adolescent Psychiatry, University of Oslo, Oslo, Norway
   Eili Sponheim
7. Service de Psychopathologie de l'Enfant et de l'Adolescent, Hôpital Robert Debré, Assistance Publique-Hôpitaux de Paris, Paris, France
   Nadia Chabane & Marie-Christine Mouren-Simeoni
8. Department of Medical Genetics, Purpan Hospital, Toulouse, France
   Philippe de Mas & Eric Bieth
9. Centre d'Etudes et de Recherches en Psychopathologie, Université de Toulouse le Mirail, Toulouse, France
   Bernadette Rogé
10. Département de Génétique, Groupe Hospitalier Pitié-Salpêtrière, Paris, France
    Delphine Héron
11. Service de Génétique, Hôpital Trousseau, Assistance Publique-Hôpitaux de Paris, Paris, France
    Lydie Burglen
12. Saint George's Hospital Medical School, London, UK
    Christopher Gillberg
13. Département de Psychiatrie, Groupe Hospitalier Henri Mondor et Albert Chenevier, Assistance Publique-Hôpitaux de Paris, Créteil, France
    Marion Leboyer

Authors

1. Christelle M Durand
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2. Catalina Betancur
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3. Tobias M Boeckers
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4. Juergen Bockmann
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5. Pauline Chaste
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6. Fabien Fauchereau
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7. Gudrun Nygren
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8. Maria Rastam
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9. I Carina Gillberg
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10. Henrik Anckarsäter
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11. Eili Sponheim
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12. Hany Goubran-Botros
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13. Richard Delorme
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14. Nadia Chabane
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15. Marie-Christine Mouren-Simeoni
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16. Philippe de Mas
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17. Eric Bieth
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18. Bernadette Rogé
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19. Delphine Héron
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20. Lydie Burglen
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21. Christopher Gillberg
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22. Marion Leboyer
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23. Thomas Bourgeron
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Correspondence toThomas Bourgeron.

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Durand, C., Betancur, C., Boeckers, T. et al. Mutations in the gene encoding the synaptic scaffolding protein SHANK3 are associated with autism spectrum disorders.Nat Genet 39, 25–27 (2007). https://doi.org/10.1038/ng1933

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• Received: 03 July 2006
• Accepted: 27 October 2006
• Published: 17 December 2006
• Issue Date: 01 January 2007
• DOI: https://doi.org/10.1038/ng1933