A variation in the CHD8 gene has a strong likelihood of leading to a type of autism accompanied by digestive problems, a larger head and wide-set eyes. “We finally got a clear-cut case of an autism-specific gene,” said Raphael Bernier, University of Washington associate professor of psychiatry and behavioral sciences and clinical director of the Autism Center at Seattle Children’s. He is one of the lead authors of a Cell paper published today, “Disruptive CHD8 Mutations Define a Subtype of Autism in Early Development.”
Today’s discovery is part of an emerging approach to studying the underlying mechanisms of autism and what those mean for people with the condition. Many research teams are trying to group subtypes of autism based on genetic profiles. The approach could uncover hundreds more genetic mutations. Genetic testing for the various forms eventually could be offered to families to guide them on what to expect and how to care for their child.
“This will be a game changer in the way scientists are researching autism,” he said. In the short term, Bernier said, clinicians can pay attention to the small population with this CHD8 mutation and provide targeted treatment.