Mutations of the X-linked genes encoding neuroligins NLGN3 and NLGN4 are associated with autism.
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.
Jamain
Stéphane
S
Laboratoire de Génétique Humaine et Fonctions Cognitives, Université Paris 7, Institut National de la Santé et la Recherche Médicale E0021, 75015 Paris, France.
Quach
Hélène
H
Betancur
Catalina
C
Råstam
Maria
M
Colineaux
Catherine
C
Gillberg
I Carina
IC
Soderstrom
Henrik
H
Giros
Bruno
B
Leboyer
Marion
M
Gillberg
Christopher
C
Bourgeron
Thomas
T
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
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