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

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.
Document type :
Journal articles
Complete list of metadatas

https://www.hal.inserm.fr/inserm-00126175
Contributor : Catalina Betancur <>
Submitted on : Monday, August 13, 2007 - 10:43:31 AM
Last modification on : Sunday, March 31, 2019 - 1:38:34 AM
Long-term archiving on : Tuesday, September 21, 2010 - 1:43:47 PM

Identifiers

Citation

Christelle Durand, Catalina Betancur, Tobias Boeckers, Juergen Bockmann, Pauline Chaste, et al.. Mutations in the gene encoding the synaptic scaffolding protein SHANK3 are associated with autism spectrum disorders.. Nature Genetics, Nature Publishing Group, 2007, 39 (1), pp.25-7. ⟨10.1038/ng1933⟩. ⟨inserm-00126175v2⟩

Share

Metrics

Record views

810

Files downloads

1579