Mutations of the X-linked genes encoding neuroligins NLGN3 and NLGN4 are associated with autism
(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.
Please use this url to cite or link to this publication:
https://lup.lub.lu.se/record/1126678
- author
- organization
- publishing date
- 2003
- type
- Contribution to journal
- publication status
- published
- subject
- 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
- DOI
- 10.1038/ng1136
- 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
- 2016-04-01 16:04:07
- date last changed
- 2022-04-22 19:10:13
@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}}, 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}}, 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/10.1038/ng1136}}, doi = {{10.1038/ng1136}}, volume = {{34}}, year = {{2003}}, }