Brief Communication abstract
Nature Genetics 39, 25 - 27 (2006)
Published online: 17 December 2006 | doi:10.1038/ng1933
Mutations in the gene encoding the synaptic scaffolding protein SHANK3 are associated with autism spectrum disorders
Christelle M Durand1, Catalina Betancur2, Tobias M Boeckers3, Juergen Bockmann3, Pauline Chaste1, Fabien Fauchereau1,4, Gudrun Nygren5, Maria Rastam5, I Carina Gillberg5, Henrik Anckarsäter5, Eili Sponheim6, Hany Goubran-Botros1, Richard Delorme1, Nadia Chabane7, Marie-Christine Mouren-Simeoni7, Philippe de Mas8, Eric Bieth8, Bernadette Rogé9, Delphine Héron10, Lydie Burglen11, Christopher Gillberg5,12, Marion Leboyer2,13 & Thomas Bourgeron1,4
SHANK3 (also known as ProSAP2) regulates the structural organization of dendritic spines and is a binding partner of neuroligins; genes encoding neuroligins are mutated in autism and Asperger syndrome. Here, we report that a mutation of a single copy of SHANK3 on chromosome 22q13 can result in language and/or social communication disorders. These mutations concern only a small number of individuals, but they shed light on one gene dosage–sensitive synaptic pathway that is involved in autism spectrum disorders.
- Human Genetics and Cognitive Functions, Institut Pasteur, Paris, France.
- INSERM U513, Université Paris XII, Créteil, France.
- Institute for Anatomy and Cell Biology, Ulm University, Ulm, Germany.
- University Denis Diderot Paris 7, Paris, France.
- Department of Child and Adolescent Psychiatry, Göteborg University, Göteborg, Sweden.
- Centre for Child and Adolescent Psychiatry, University of Oslo, Oslo, Norway.
- Service de Psychopathologie de l'Enfant et de l'Adolescent, Hôpital Robert Debré, Assistance Publique-Hôpitaux de Paris, Paris, France.
- Purpan Hospital, Department of Medical Genetics, Toulouse, France.
- Centre d'Etudes et de Recherches en Psychopathologie, Université de Toulouse le Mirail, Toulouse, France.
- Département de Génétique, Groupe Hospitalier Pitié-Salpêtrière, Paris, France.
- Service de Génétique, Hôpital Trousseau, Assistance Publique-Hôpitaux de Paris, Paris, France.
- Saint George's Hospital Medical School, London, UK.
- Département de Psychiatrie, Groupe Hospitalier Henri Mondor et Albert Chenevier, Assistance Publique-Hôpitaux de Paris, Créteil, France.
Correspondence to: Thomas Bourgeron1,4 e-mail: thomasb@pasteur.fr
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