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Nat Genet. 2003 May;34(1):27-9.

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

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  • 1Laboratoire de Génétique Humaine et Fonctions Cognitives, Université Paris 7, Institut National de la Santé et la Recherche Médicale E0021, 75015 Paris, France.

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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PMID:
12669065
[PubMed - indexed for MEDLINE]
PMCID:
PMC1925054
Free PMC Article
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