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Mutations of the X-linked genes encoding neuroligins NLGN3 and NLGN4 are associated with autism.

Journal article
Authors Stéphane Jamain
Hélène Quach
Catalina Betancur
Maria Råstam
Catherine Colineaux
I Carina Gillberg
Henrik Söderström
Bruno Giros
Marion Leboyer
Christopher Gillberg
Thomas Bourgeron
Published in Nature genetics
Volume 34
Issue 1
Pages 27-9
ISSN 1061-4036
Publication year 2003
Published at Institute for the Health of Women and Children, Dept of Child and Adolescent Psychiatry
Institute of Clinical Neurosciences, Section of Psychiatry
Pages 27-9
Language en
Keywords Amino Acid Sequence, Autistic Disorder, genetics, metabolism, Base Sequence, Brain, metabolism, Carrier Proteins, genetics, Chromosomes, Human, X, genetics, DNA, Complementary, genetics, Female, Gene Expression Profiling, Humans, Linkage (Genetics), Male, Membrane Proteins, genetics, Molecular Sequence Data, Mutation, Nerve Tissue Proteins, genetics, Pedigree, RNA, Messenger, genetics, metabolism, Sequence Homology, Amino Acid
Subject categories Child and adolescent psychiatry


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.

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