Neuroligins/Neurexins/Shank3

Nlgn3 and Nlgn4

The neuroligins are an attractive target to investigate for ASD research because they are thought to be vital in the formation of neural circuits. Given the higher prevalence of autism in males, nlgn3 and nlgn4 have received extra attention because they are located on the X-chromosome. Results from studies, however, have been conflicting. Some have detected genetic variants in NLGN3 and NLGN4 in probands with autism, mental retardation, or pervasive developmental disorders ( PMID 14963808, 15622415). In contrast, many other attempts to find the same or new variants in different ASD patients failed (PMID 18189281, 15274046, 16508939, 16077734). Confounding factors is doing genetic association studies about ASD are the heterogeneity of the populations and the need for large sample sizes to achieve statistical significance. As it is, while many new variants that can likely cause ASD have been detected in ASD patients, these variants are probably only responsible for a small number of cases. BACK to Genetics