Late-breaking mutations may play an important role in autism
Over the past decade, mutations to more than 60 different genes have been linked with autism spectrum disorder (ASD), including spontaneous , non-inherited (de novo) mutations. But much of autism still remains unexplained. The study, led by first author Elaine Lim, PhD, of Boston Children's, and senior author Christopher Walsh, MD, PhD, of Boston Children's and the Broad Institute, delved into an emerging category of de novo mutations: those found in only a subset of our cells. De novo mutations can occur in a parent's sperm or egg, or they can occur after fertilization, arising in an embryonic cell. These are known as post-zygotic mutations or PZMs (also known as somatic mutations). The later PZMs occur during embryonic development, the fewer cells will carry them, making them harder to detect. "If the mutation is in a very small fraction of all cells, it will be missed by whole-exome sequencing," says Lim. Finding post-zygotic mutations To find PZMs,...