A new study has identified an association between paternally-inherited rare structural variants in noncoding segments of genes and the development of autism spectrum disorder (ASD). The study, funded in part by the National Institute of Mental Health (NIMH) and published in Science, adds to a growing body of research describing genetic contributors to ASD.
ASD is a developmental disorder that affects communication and behavior. While the exact causes of ASD are unknown, researchers have identified a number of genes associated with the development of ASD. Many studies have focused on examining the inheritance of, or mutations in, portions of genes that code for the creation of proteins or other molecular products. But these new findings suggest that rare, inherited structural differences in the noncoding portions of genes also contribute to ASD.
“Gene sequences represent only two percent of the genome.” said Jonathan Sebat, Ph.D., of University of California San Diego School of Medicine (UCSD) and the Beyster Center for Genomics of Psychiatric Diseases. “The next challenge is to identify ASD risk variants affecting genetic regulatory elements. Examining these elements will help us understand the genetic components that contribute to the development of ASD, and symptoms seen in people with ASD.”