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Mutations in the gene encoding the synaptic scaffolding protein SHANK3 are associated with autism spectrum disorders.

Journal article
Authors Christelle. M. Durand
Catalina Betancur
Tobias M Boeckers
Juergen Bockmann
Pauline Chaste
Fabien Fauchereau
Gudrun Nygren
Maria Råstam
I Carina Gillberg
Henrik Anckarsäter
Eili Sponheim
Hany Goubran-Botros
Richard Delorme
Nadia Chabane
Marie-Christine Mouren-Simeoni
Philippe de Mas
Eric Bieth
Bernadette Rogé
Delphine Héron
Lydie Burglen
Christopher Gillberg
Marion Leboyer
Thomas Bourgeron
Published in Nature Genetics
Volume 39
Issue 1
Pages 25-27
ISSN 1061-4036
Publication year 2007
Published at Institute of Neuroscience and Physiology, Department of Psychiatry and Neurochemistry
Pages 25-27
Language en
Links dx.doi.org/10.1038/ng1933
Keywords Autistic Disorder, Genetics, Base Sequence, Carrier Proteins, Genetics, DNA Mutational Analysis, Female, Genetic Screening, Humans, In Situ Hybridization, Fluorescence, Male, Molecular Sequence Data, Mutation, Pedigree
Subject categories Psychiatry

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.

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