Autism Linked to a Single Gene

A Washington University-led team of researchers studying neurofibromatosis type 1, a genetic condition that causes tumors to grow along the nerves, have discovered an association between the NF1 gene and autism.

“In the 25-plus years that I’ve taken care of kids with NF1, we’ve only recently started to recognize that these children also often have symptoms of autism,” senior investigator David H. Gutmann, Professor of Neurology and director of the Washington University NF Center said in a statement. “In the past we didn’t really understand the association between NF1 and autism, but now we have new insights into the problem, which will allow us to design better treaments for children with NF1 and autism.”

To confirm this link, the team worked with a group of 531 children with neurofibromatosis type 1, and assessed each one to produce a quantitative autism trait (QAT) score, which indicates the number and severity of their autism-like symptoms. The discovered the number of participants with QAT scores of higher than 75 percent was 13 times greater than in the general population, suggesting that a mutation to the NF1 gene does cause autism, according to IFLScience.com. 

The team also noticed that the nature and severity of symptoms varied greatly between all patients, indicating that the NF1 gene is capable of producing the full spectrum of autism traits. This connection is significant because it means researchers may now be able to identify all of the biological processes that are disrupted by autism and may eventually provide the opportunity to develop new therapies that treat the underlying cause of autism.