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

Jamain, Stephane; Quach, Helene; Betancur, Catalina; Råstam, Maria LU ; Colineaux, Catherine; Gillberg, I Carina; Söderstrom, Henrik; Giros, Bruno; Leboyer, Marion and Gillberg, Christopher, et al. (2003) In Nature Genetics 34(1). p.27-29
Abstract
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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keywords
Male, Membrane Proteins, Linkage (Genetics), Humans, Gene Expression Profiling, Female, genetics, Complementary, DNA, X, Human, Chromosomes, Carrier Proteins, metabolism, Brain, Base Sequence, Autistic Disorder, Amino Acid Sequence, Molecular Sequence Data, Mutation, Nerve Tissue Proteins, Pedigree, RNA, Messenger, Sequence Homology, Amino Acid
in
Nature Genetics
volume
34
issue
1
pages
27 - 29
publisher
Nature Publishing Group
external identifiers
  • pmid:12669065
  • scopus:0037656313
ISSN
1546-1718
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language
English
LU publication?
yes
id
d6f12fa9-d94e-4cd0-9e85-005f48b70b6a (old id 1126678)
alternative location
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1925054/?tool=pubmed
date added to LUP
2011-02-18 15:02:52
date last changed
2018-06-24 04:35:42
@article{d6f12fa9-d94e-4cd0-9e85-005f48b70b6a,
  abstract     = {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.},
  author       = {Jamain, Stephane and Quach, Helene and Betancur, Catalina and Råstam, Maria and Colineaux, Catherine and Gillberg, I Carina and Söderstrom, Henrik and Giros, Bruno and Leboyer, Marion and Gillberg, Christopher and Bourgeron, Thomas and Nydén, Agneta and Philippe, Anne and Cohen, Deborah and Chabane, Nadia and Mouren-Siméoni, Marie-Christine and Brice, Alexis and Sponheim, Eili and Spurkland, Ingrid and Skjeldal, Ola H and Coleman, Mary and Pearl, Philip L and Cohen, Ira L and Tsiouris, John and Zappella, Michele and Menchetti, Grazia and Pompella, Alfonso and Aschauer, Harald and Van Maldergem, Lionel},
  issn         = {1546-1718},
  keyword      = {Male,Membrane Proteins,Linkage (Genetics),Humans,Gene Expression Profiling,Female,genetics,Complementary,DNA,X,Human,Chromosomes,Carrier Proteins,metabolism,Brain,Base Sequence,Autistic Disorder,Amino Acid Sequence,Molecular Sequence Data,Mutation,Nerve Tissue Proteins,Pedigree,RNA,Messenger,Sequence Homology,Amino Acid},
  language     = {eng},
  number       = {1},
  pages        = {27--29},
  publisher    = {Nature Publishing Group},
  series       = {Nature Genetics},
  title        = {Mutations of the X-linked genes encoding neuroligins NLGN3 and NLGN4 are associated with autism},
  url          = {http://dx.doi.org/},
  volume       = {34},
  year         = {2003},
}