Advanced

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

Durand, Christelle M; Betancur, Catalina; Boeckers, Tobias M; Bockmann, Juergen; Chaste, Pauline; Fauchereau, Fabien; Nygren, Gudrun; Råstam, Maria LU ; Gillberg, I Carina and Anckarsäter, Henrik LU , et al. (2006) In Nature Genetics 39(1). p.25-27
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.
Please use this url to cite or link to this publication:
author
, et al. (More)
(Less)
organization
publishing date
type
Contribution to journal
publication status
published
subject
in
Nature Genetics
volume
39
issue
1
pages
25 - 27
publisher
Nature Publishing Group
external identifiers
  • PMID:17173049
  • Scopus:33845889998
ISSN
1546-1718
DOI
10.1038/ng1933
language
English
LU publication?
yes
id
03b442fd-5772-444c-80dd-3afe01c8ae9d (old id 1139188)
alternative location
http://www.nature.com/ng/journal/v39/n1/full/ng1933.html
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2082049/
http://www.ncbi.nlm.nih.gov/pubmed/17173049
date added to LUP
2008-08-19 16:05:41
date last changed
2016-12-04 04:37:30
@misc{03b442fd-5772-444c-80dd-3afe01c8ae9d,
  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.},
  author       = {Durand, Christelle M and Betancur, Catalina and Boeckers, Tobias M and Bockmann, Juergen and Chaste, Pauline and Fauchereau, Fabien and Nygren, Gudrun and Råstam, Maria and Gillberg, I Carina and Anckarsäter, Henrik and Sponheim, Eili and Goubran-Botros, Hany and Delorme, Richard},
  issn         = {1546-1718},
  language     = {eng},
  number       = {1},
  pages        = {25--27},
  publisher    = {ARRAY(0xb5c5c38)},
  series       = {Nature Genetics},
  title        = {Mutations in the gene encoding the synaptic scaffolding protein SHANK3 are associated with autism spectrum disorders},
  url          = {http://dx.doi.org/10.1038/ng1933},
  volume       = {39},
  year         = {2006},
}