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


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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Figure 1: Expression of NLGN genes in the human brain.
Figure 2: Screening for mutations in NLGN3 and NLGN4 in autistic individuals.

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We thank the affected individuals and their families for agreeing to participate in this study, the délégation à la recherche clinique de l'assistance publique des hôpitaux de Paris for promoting this study, the Centre d'Investigations Cliniques de l'Hôpital Robert Debré for obtaining the blood samples from the French families, V. Sazdovitch for providing brain samples and C. Bouchier and S. Duthoy for use of the sequencing facilities at the Génopole Pasteur. This work was funded by the French Research Ministry (Actions Concertées Incitatives), the Institut National de la Santé et la Recherche Médicale, France Télécom and the Swedish Medical Research Council.

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Correspondence to Thomas Bourgeron.

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Jamain, S., Quach, H., Betancur, C. et al. Mutations of the X-linked genes encoding neuroligins NLGN3 and NLGN4 are associated with autism. Nat Genet 34, 27–29 (2003).

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