Article
Mutations in the gene encoding the synaptic scaffolding protein SHANK3 are associated with autism spectrum disorders.
Nature genetics - 1 Jan 2007
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
Abstract excerpt
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...
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