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

  title={Mutations in the gene encoding the synaptic scaffolding protein SHANK3 are associated with autism spectrum disorders},
  author={Christelle M. Durand and Catalina Betancur and Tobias M. Boeckers and Juergen Bockmann and Pauline Chaste and Fabien Fauchereau and Gudrun Nygren and Maria R{\aa}stam and I. Carina Gillberg and Henrik Anckars{\"a}ter and Eili Sponheim and Hany Goubran-Botros and Richard Delorme and Nadia Chabane and Marie Christine Mouren-Sim{\'e}oni and Philippe de Mas and Eric Bieth and Bernadette Rog{\'e} and D{\'e}lphine Heron and Lydie Burglen and Christopher Gillberg and Marion Leboyer and Thomas Bourgeron},
  journal={Nature Genetics},
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… 

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The major genetic, molecular, behavior and electrophysiological studies that provide new clues into the function of Shanks are summarized and pave the way for the discovery of new therapeutic drugs targeted to treat patients with SHANK mutations and also patients affected by other neurodevelopmental and neuropsychiatric disorders.

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Severe expressive-language delay related to duplication of the Williams-Beuren locus.

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