Article
Rates, distribution and implications of postzygotic mosaic mutations in autism spectrum disorder.
Nature neuroscience - 1 Sept 2017
Lim Elaine T, Uddin Mohammed, De Rubeis Silvia, Chan Yingleong, Kamumbu Anne S, Zhang Xiaochang, D'Gama Alissa M, Kim Sonia N, Hill Robert Sean, Goldberg Arthur P, Poultney Christopher, Minshew Nancy J, Kushima Itaru, Aleksic Branko, Ozaki Norio, Parellada Mara, Arango Celso, Penzol Maria J, Carracedo Angel, Kolevzon Alexander, Hultman Christina M, Weiss Lauren A, Fromer Menachem, Chiocchetti Andreas G, Freitag Christine M, Church George M, Scherer Stephen W, Buxbaum Joseph D, Walsh Christopher A
Abstract excerpt
We systematically analyzed postzygotic mutations (PZMs) in whole-exome sequences from the largest collection of trios (5,947) with autism spectrum disorder (ASD) available, including 282 unpublished trios, and performed resequencing using multiple independent technologies. We identified 7.5% of de novo mutations as PZMs, 83.3% of which were not described in previous studies. Damaging, nonsynonymous PZMs within...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.