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.

SUBMITTER: Durand CM 

PROVIDER: S-EPMC2082049 | biostudies-literature | 2007 Jan

REPOSITORIES: biostudies-literature