Brian J. O’Roak, Ph.D., assistant professor of molecular and medical genetics, OHSU, January 4, 2017. Credit: OHSU/John Valls
Autism spectrum disorder affects ~1 out of every 68 children in the US. Despite expansive study, the origin and risk factors of the complex condition are not fully understood. To better understand the root causes, an team led by researchers at OHSU in Portland, Oregon has applied a new systematic analysis to a cohort of 2,300 families who have a single child affected with autism. The study focused on identifying and characterizing low-lying genetic mutations that may have been missed in previous research, given these mutations are only present in a fraction of the bulk DNA of an individual.
Known as postzygotic mosaic mutations, or PMMs, these genetic changes occur ...
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