Exonic Mosaic Mutations Contribute Risk for Autism Spectrum Disorder

Genetic risk factors for autism spectrum disorder (ASD) have yet to be fully elucidated. Postzygotic mosaic mutations (PMMs) have been implicated in several neurodevelopmental disorders and overgrowth syndromes. By leveraging whole-exome sequencing data on a large family-based ASD cohort, the Simons Simplex Collection, we systematically evaluated the potential role of PMMs in autism risk. Initial re-evaluation of published single-nucleotide variant (SNV) de novo mutations showed evidence consistent with putative PMMs for 11% of mutations.

Source: The American Journal of Human Genetics - August 31, 2017 Category: Genetics & Stem Cells Authors: Deidre R. Krupp, Rebecca A. Barnard, Yannis Duffourd, Sara A. Evans, Ryan M. Mulqueen, Raphael Bernier, Jean-Baptiste Rivi ère, Eric Fombonne, Brian J. O’Roak Tags: Article Source Type: research