Lauren Weiss and her colleagues used a ‘pathway’ approach — looking at a group of genes connected in a defined biological pathway — to investigate the role of the RAS/MAPK signaling pathway in autism traits. This pathway controls many cellular functions. The researchers compared a large sample representing individuals with RASopathies — genetic, developmental disorders caused by mutations activating the RAS/MAPK pathway — with unaffected siblings and individuals with autism.
Each RASopathy — neurofibromatosis type 1, Noonan syndrome, Costello syndrome and cardio-facio-cutaneous syndrome — is associated with autism traits, with distinct distributions. Impairment across the core autism domains and male autism bias in participants with a RASopathy suggest similarities to autism.
Because a large proportion of individuals with RASopathies have social, communication and behavioral deficits consistent with autism, Weiss and her team suggest that individuals with RASopathies be offered testing and treatment for social communication impairment. This SFARI Explorer project was part of a larger study published in October 2013 in the Journal of Medical Genetics1.