Mutations in two members of the neuroligin family, NLGN3 and NLGN4, have been associated with autism and Asperger syndrome.

Neuroligins are a family of proteins that affect interactions between neurons. Neuroligins function as ligands for neurexins, which are receptors on the surface of a cell. By binding to these receptors, neuroligins can induce a signal in the cell, which may affect the formation and reformation of synapses. Mutations in two neuroligins, NLGN3 and NLGN4, are associated with autism and Asperger syndrome. A mutation in NLGN3 was found in a Swedish family, where one brother had X-linked autism and another had X-linked Asperger syndrome (Jamain and colleagues, 2003). The mutation involved a substitution - a C to T transition. It was inherited from the individuals’ mother and not found in 200 controls. Tabuchi and colleagues (2007) induced a similar mutation in mice, who subsequently showed impaired social interactions.

neuroligin, nlgn3, nlgn4, receptors, synapses, autism, gene, asperger, aspergers,