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

  • Nat Genet. 2003 May;34(1):27-9. doi: 10.1038/ng1136.
Stéphane Jamain  1 ,  Hélène Quach ,  Catalina Betancur ,  Maria Råstam ,  Catherine Colineaux ,  I Carina Gillberg ,  Henrik Soderstrom ,  Bruno Giros ,  Marion Leboyer ,  Christopher Gillberg ,  Thomas Bourgeron ,  Paris Autism Research International Sibpair Study
Affiliations
  • 1. Laboratoire de Génétique Humaine et Fonctions Cognitives, Université Paris 7, Institut National de la Santé et la Recherche Médicale E0021, 75015 Paris, France.
PMID: 12669065 DOI: 10.1038/ng1136
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.