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

摘要: A large French family including members affected by nonspecific X-linked mental retardation, with or without autism pervasive developmental disorder in male patients, has been found to have a 2–base-pair deletion the Neuroligin 4 gene (NLGN4) located at Xp22.33. This mutation leads premature stop codon middle of sequence normal protein and is thought suppress transmembrane domain sequences important for dimerization neuroligins that are required proper cell-cell interaction through binding β-neurexins. As mostly enriched excitatory synapses, these results suggest defect synaptogenesis may lead deficits cognitive development communication processes. The fact was present both autistic nonautistic mentally retarded males suggests NLGN4 not only involved autism, as previously described, but also indicating some types retardation common genetic origins.