Mutations of the X-linked genes encoding neuroligins NLGN3 and NLGN4 are associated with autism.
paper
Cited
Public
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- Authors
- Jamain, StΓ©phane; Quach, HΓ©lΓ¨ne; Betancur, Catalina; RΓ₯stam, Maria; Colineaux, Catherine; Gillberg, I Carina; Soderstrom, Henrik; Giros, Bruno; Leboyer, Marion; Gillberg, Christopher; Bourgeron, Thomas; Paris Autism Research International Sibpair Study
- Year
- 2003
- Journal
- Nature genetics
- PMID
- 12669065
- DOI
- 10.1038/ng1136
- PMCID
- PMC1925054
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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