New Autism-Related Gene Variants Discovered
Genetics researchers have identified 25 additional copy number variations (CNVs)—missing or duplicated stretches of DNA—that occur in some patients with autism. These CNVs, say the researchers, are “high impact”: although individually rare, each has a strong effect in raising an individual’s risk for autism.
“Many of these gene variants may serve as valuable predictive markers,” said the study’s corresponding author, Hakon Hakonarson, M.D., Ph.D., director of the Center for Applied Genomics at The Children’s Hospital of Philadelphia. “If so, they may become part of a clinical test that will help evaluate whether a child has an autism spectrum disorder.”
Hakonarson collaborated with scientists from the University of Utah and the biotechnology company Lineagen, Inc., in the study, published in the journal PLOS ONE.
The current study builds on and extends previous gene research by Hakonarson and other scientists on autism spectrum disorders (ASDs), a group of childhood neurodevelopmental disorders that cause impairments in verbal communication, social interaction and behavior. Estimated by the CDC to affect as many as one in 88 U.S. children, ASDs are known from family studies to be strongly influenced by genetics.
