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Mutations in the gene encoding the synaptic scaffolding protein SHANK3 are associated with autism spectrum disorders |
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| Authors: | 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 |
| Institution: | Human Genetics and Cognitive Functions, Institut Pasteur, Paris, France. |
| Abstract: | 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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