Dataset Information

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

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

Durand Christelle M CM Betancur Catalina C Boeckers Tobias M TM Bockmann Juergen J Chaste Pauline P Fauchereau Fabien F Nygren Gudrun G Rastam Maria M Gillberg I Carina IC Anckarsäter Henrik H Sponheim Eili E Goubran-Botros Hany H Delorme Richard R Chabane Nadia N Mouren-Simeoni Marie-Christine MC de Mas Philippe P Bieth Eric E Rogé Bernadette B Héron Delphine D Burglen Lydie L Gillberg Christopher C Leboyer Marion M Bourgeron Thomas T

Nature genetics 20061217 1

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 spec ...[more]

PMID: 17173049

Dataset Information

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

Publications

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

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