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Mutations in the gene encoding the synaptic scaffolding protein SHANK3 are associated with autism spectrum disorders.

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Durand, Christelle, M. | Betancur, Catalina | Boeckers, Tobias, M. | Bockmann, Juergen | Chaste, Pauline | Fauchereau, Fabien | Nygren, Gudrun | Rastam, Maria | Gillberg, I Carina | Anckarsäter, Henrik | Sponheim, Eili | Goubran-Botros, Hany | Delorme, Richard | Chabane, Nadia | Mouren-Simeoni, Marie-Christine | de Mas, Philippe | Bieth, Eric | Rogé, Bernadette | Héron, Delphine | Burglen, Lydie | Gillberg, Christopher | Leboyer, Marion | Bourgeron, Thomas

Edité par CCSD ; Nature Publishing Group -

International audience. 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.

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