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

S Jamain, H Quach, C Betancur, M R�stam…�- Nature�…, 2003 - nature.com
S Jamain, H Quach, C Betancur, M R�stam, C Colineaux, IC Gillberg, H Soderstrom, B Giros
Nature genetics, 2003nature.com
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.
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.
nature.com
Showing the best result for this search. See all results