Article
Disruptive CHD8 mutations define a subtype of autism early in development.
Cell - 17 Jul 2014
Bernier Raphael, Golzio Christelle, Xiong Bo, Stessman Holly A, Coe Bradley P, Penn Osnat, Witherspoon Kali, Gerdts Jennifer, Baker Carl, Vulto-van Silfhout Anneke T, Schuurs-Hoeijmakers Janneke H, Fichera Marco, Bosco Paolo, Buono Serafino, Alberti Antonino, Failla Pinella, Peeters Hilde, Steyaert Jean, Vissers Lisenka E L M, Francescatto Ludmila, Mefford Heather C, Rosenfeld Jill A, Bakken Trygve, O'Roak Brian J, Pawlus Matthew, Moon Randall, Shendure Jay, Amaral David G, Lein Ed, Rankin Julia, Romano Corrado, de Vries Bert B A, Katsanis Nicholas, Eichler Evan E
Abstract excerpt
Autism spectrum disorder (ASD) is a heterogeneous disease in which efforts to define subtypes behaviorally have met with limited success. Hypothesizing that genetically based subtype identification may prove more productive, we resequenced the ASD-associated gene CHD8 in 3,730 children with developmental delay or ASD. We identified a total of 15 independent mutations; no truncating events were identified in 8,792...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.