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

@article{Durand2007MutationsIT,
  title={Mutations in the gene encoding the synaptic scaffolding protein SHANK3 are associated with autism spectrum disorders},
  author={C. Durand and C. Betancur and T. Boeckers and J. Bockmann and P. Chaste and F. Fauchereau and G. Nygren and M. R{\aa}stam and I. Gillberg and H. Anckars{\"a}ter and E. Sponheim and H. Goubran-Botros and R. Delorme and N. Chabane and Marie-Christine Mouren-Sim{\'e}oni and P. Mas and E. Bieth and B. Rog{\'e} and D. H{\'e}ron and L. Burglen and C. Gillberg and M. Leboyer and T. Bourgeron},
  journal={Nature Genetics},
  year={2007},
  volume={39},
  pages={25-27}
}
  • C. Durand, C. Betancur, +20 authors T. Bourgeron
  • Published 2007
  • Biology, Medicine
  • 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… CONTINUE READING
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