title: Mutations of the X-linked genes encoding neuroligins NLGN3 and NLGN4 are associated with autism.
abstract: Many studies have supported a genetic etiology for autism. Here we report mutations in two X-linked genes encoding neuroligins NLGN3 and NLGN4 in siblings with autism-spectrum disorders. These mutations affect cell-adhesion molecules localized at the synapse and suggest that a defect of synaptogenesis may predispose to autism.
authors.affiliation: Laboratoire de Génétique Humaine et Fonctions Cognitives, Université Paris 7, Institut National de la Santé et la Recherche Médicale E0021, 75015 Paris, France.
authors.forename: Stéphane
authors.initials: S
authors.lastname: Jamain
authors.forename: Hélène
authors.initials: H
authors.lastname: Quach
authors.forename: Catalina
authors.initials: C
authors.lastname: Betancur
authors.forename: Maria
authors.initials: M
authors.lastname: Råstam
authors.forename: Catherine
authors.initials: C
authors.lastname: Colineaux
authors.forename: I Carina
authors.initials: IC
authors.lastname: Gillberg
authors.forename: Henrik
authors.initials: H
authors.lastname: Soderstrom
authors.forename: Bruno
authors.initials: B
authors.lastname: Giros
authors.forename: Marion
authors.initials: M
authors.lastname: Leboyer
authors.forename: Christopher
authors.initials: C
authors.lastname: Gillberg
authors.forename: Thomas
authors.initials: T
authors.lastname: Bourgeron
mesh_terms: D000595:Amino Acid Sequence; D001321:Autistic Disorder / Q000235:genetics* / Q000378:metabolism; D001483:Base Sequence; D001921:Brain / Q000378:metabolism; D002352:Carrier Proteins / Q000235:genetics*; D015816:Cell Adhesion Molecules, Neuronal; D041321:Chromosomes, Human, X / Q000235:genetics*; D018076:DNA, Complementary / Q000235:genetics; D005260:Female; D020869:Gene Expression Profiling; D008040:Genetic Linkage; D006801:Humans; D008297:Male; D008565:Membrane Proteins / Q000235:genetics*; D008969:Molecular Sequence Data; D009154:Mutation; D009419:Nerve Tissue Proteins / Q000235:genetics*; D010375:Pedigree; D012333:RNA, Messenger / Q000235:genetics / Q000378:metabolism; D017386:Sequence Homology, Amino Acid
chemical_list: D002352:Carrier Proteins; D015816:Cell Adhesion Molecules, Neuronal; D018076:DNA, Complementary; D008565:Membrane Proteins; C430845:NLGN4X protein, human; D009419:Nerve Tissue Proteins; D012333:RNA, Messenger; C098004:neuroligin 3