Mutations of the X-linked genes encoding neuroligins NLGN3 and NLGN4 are associated with autism.
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ABSTRACT:
SUBMITTER: Jamain S
PROVIDER: S-EPMC1925054 | biostudies-literature | 2003 May
REPOSITORIES: biostudies-literature
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Mutations of the X-linked genes encoding neuroligins NLGN3 and NLGN4 are associated with autism.
Jamain Stéphane S Quach Hélène H Betancur Catalina C Råstam Maria M Colineaux Catherine C Gillberg I Carina IC Soderstrom Henrik H Giros Bruno B Leboyer Marion M Gillberg Christopher C Bourgeron Thomas T
Nature genetics 20030501 1
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. ...[more]
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