title: 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.
authors.affiliation: Human Genetics and Cognitive Functions, Institut Pasteur, Paris, France.
authors.forename: Christelle M
authors.initials: CM
authors.lastname: Durand
authors.forename: Catalina
authors.initials: C
authors.lastname: Betancur
authors.forename: Tobias M
authors.initials: TM
authors.lastname: Boeckers
authors.forename: Juergen
authors.initials: J
authors.lastname: Bockmann
authors.forename: Pauline
authors.initials: P
authors.lastname: Chaste
authors.forename: Fabien
authors.initials: F
authors.lastname: Fauchereau
authors.forename: Gudrun
authors.initials: G
authors.lastname: Nygren
authors.forename: Maria
authors.initials: M
authors.lastname: Rastam
authors.forename: I Carina
authors.initials: IC
authors.lastname: Gillberg
authors.forename: Henrik
authors.initials: H
authors.lastname: Anckarsäter
authors.forename: Eili
authors.initials: E
authors.lastname: Sponheim
authors.forename: Hany
authors.initials: H
authors.lastname: Goubran-Botros
authors.forename: Richard
authors.initials: R
authors.lastname: Delorme
authors.forename: Nadia
authors.initials: N
authors.lastname: Chabane
authors.forename: Marie-Christine
authors.initials: MC
authors.lastname: Mouren-Simeoni
authors.forename: Philippe
authors.initials: P
authors.lastname: de Mas
authors.forename: Eric
authors.initials: E
authors.lastname: Bieth
authors.forename: Bernadette
authors.initials: B
authors.lastname: Rogé
authors.forename: Delphine
authors.initials: D
authors.lastname: Héron
authors.forename: Lydie
authors.initials: L
authors.lastname: Burglen
authors.forename: Christopher
authors.initials: C
authors.lastname: Gillberg
authors.forename: Marion
authors.initials: M
authors.lastname: Leboyer
authors.forename: Thomas
authors.initials: T
authors.lastname: Bourgeron
mesh_terms: D001321:Autistic Disorder / Q000235:genetics*; D001483:Base Sequence; D002352:Carrier Proteins / Q000235:genetics*; D004252:DNA Mutational Analysis; D005260:Female; D005820:Genetic Testing; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D008297:Male; D008969:Molecular Sequence Data; D009154:Mutation; D009419:Nerve Tissue Proteins; D010375:Pedigree
chemical_list: D002352:Carrier Proteins; D009419:Nerve Tissue Proteins; C492357:SHANK3 protein, human