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Brief Communication

Nature Genetics 39, 25–27 (1 January 2007) | doi:10.1038/ng1933

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

Christelle M Durand , Catalina Betancur , Tobias M Boeckers , Juergen Bockmann , Pauline Chaste , Fabien Fauchereau , Gudrun Nygren , Maria Rastam , I Carina Gillberg , Henrik Anckars|[auml]|ter , Eili Sponheim , Hany Goubran-Botros , Richard Delorme , Nadia Chabane , Marie-Christine Mouren-Simeoni , Philippe de Mas , Eric Bieth , Bernadette Rog|[eacute]| , Delphine H|[eacute]|ron , Lydie Burglen , Christopher Gillberg , Marion Leboyer & Thomas Bourgeron

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.