X-linked mental retardation and autism are associated with a mutation in the NLGN4 gene, a member of the neuroligin family.

ABSTRACT: A large French family including members affected by nonspecific X-linked mental retardation, with or without autism or pervasive developmental disorder in affected male patients, has been found to have a 2-base-pair deletion in the Neuroligin 4 gene (NLGN4) located at Xp22.33. This mutation leads to a premature stop codon in the middle of the sequence of the normal protein and is thought to suppress the transmembrane domain and sequences important for the dimerization of neuroligins that are required for proper cell-cell interaction through binding to beta-neurexins. As the neuroligins are mostly enriched at excitatory synapses, these results suggest that a defect in synaptogenesis may lead to deficits in cognitive development and communication processes. The fact that the deletion was pre

SUBMITTER: Laumonnier F 

PROVIDER: S-EPMC1182268 | biostudies-literature | 2004 Mar

REPOSITORIES: biostudies-literature