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- Title
Mutations in the gene encoding the synaptic scaffolding protein SHANK3 are associated with autism spectrum disorders.
- Authors
Durand, Christelle M; Betancur, Catalina; Boeckers, Tobias M; Bockmann, Juergen; Chaste, Pauline; Fauchereau, Fabien; Nygren, Gudrun; Rastam, Maria; Gillberg, I Carina; Anckarsäter, Henrik; Sponheim, Eili; Goubran-Botros, Hany; Delorme, Richard; Chabane, Nadia; Mouren-Simeoni, Marie-Christine; de Mas, Philippe; Bieth, Eric; Rogé, Bernadette; Héron, Delphine; Burglen, Lydie
- 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.
- Subjects
SYNAPSES; DENDRITIC cells; NEUROTRANSMITTERS; AUTISM; GENETIC mutation; ASPERGER'S syndrome; MEMBRANE proteins
- Publication
Nature Genetics, 2007, Vol 39, Issue 1, p25
- ISSN
1061-4036
- Publication type
Article
- DOI
10.1038/ng1933