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PMID: 17173049 Published · ppublish English Journal Article Research Support, Non-U.S. Gov't

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

Nature genetics ·Vol. 39 ·No. 1 ·2007-01-00 ·Pages 25-7

Durand CM, Betancur C, Boeckers TM, Bockmann J, Chaste P, Fauchereau F, Nygren G, Rastam M, Gillberg IC, Anckarsäter H, Sponheim E, Goubran-Botros H, Delorme R, Chabane N, Mouren-Simeoni MC, de Mas P, Bieth E, Rogé B, Héron D, Burglen L, Gillberg C, Leboyer M, Bourgeron T

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.

MeSH Terms
Autistic Disorder/genetics Base Sequence Carrier Proteins/genetics DNA Mutational Analysis Female Genetic Testing Humans In Situ Hybridization, Fluorescence Male Molecular Sequence Data Mutation Nerve Tissue Proteins Pedigree
Chemicals
Carrier Proteins Nerve Tissue Proteins SHANK3 protein, human
Authors & Affiliations
23 authors, click to expand affiliations / ORCID
Durand Christelle M
Human Genetics and Cognitive Functions, Institut Pasteur, Paris, France.
Betancur Catalina
Boeckers Tobias M
Bockmann Juergen
Chaste Pauline
Fauchereau Fabien
Nygren Gudrun
Rastam Maria
Gillberg I Carina
Anckarsäter Henrik
Sponheim Eili
Goubran-Botros Hany
Delorme Richard
Chabane Nadia
Mouren-Simeoni Marie-Christine
de Mas Philippe
Bieth Eric
Rogé Bernadette
Héron Delphine
Burglen Lydie
Gillberg Christopher
Leboyer Marion
Bourgeron Thomas
References (15)
15 references, click to expand
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Article Info
Journal
Nature genetics
Abbr.
Nat Genet
ISSN
1061-4036
DOI
10.1038/ng1933
Published
2007-01-00
Epub
2006-00-17
Pages
25-7
Language
English
Region
United States
NLM ID
9216904
PMCID
PMC2082049
Subset
IM
External Links
PubMed source DOI: 10.1038/ng1933 PMC Full Text View journal details
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