NLGN3 Gene

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

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.