Advanced Knowledge on Autism, Basing on Mosaic Mutations
by Angela Mohan on
January 12, 2021 at 5:31 PM
Mosaic mutations arising during embryonic development could lead to the development of autism spectrum disorder (ASD), as per two studies published in
Nature Neuroscience, led by researchers at Boston Children's Hospital, Brigham and Women's Hospital (BWH), and Harvard Medical School (HMS).
The findings open new areas for exploring the genetics of ASD and could eventually inform diagnostic testing. Mosaic mutations affect only a portion of a person's cells. Rather than being inherited, they arise as a "mistake" introduced when a stem cell divides. A mutation in a stem cell will only be passed to the cells that descend from it, producing the mosaic pattern.