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Disruptive CHD8 Mutations Define a Subtype of Autism Early in Development
Authors
Antonino Alberti
David G Amaral
+32 more
Carl Baker
Trygve Bakken
Raphael Bernier
Paolo Bosco
Serafino Buono
Bradley P Coe
Bert BA de Vries
Evan E Eichler
Pinella Failla
Marco Fichera
Ludmila Francescatto
Jennifer Gerdts
Christelle Golzio
Nicholas Katsanis
Ed Lein
Heather C Mefford
Randall Moon
Brian J O'Roak
Matthew Pawlus
Hilde Peeters
Osnat Penn
Julia Rankin
Corrado Romano
Jill A Rosenfeld
Janneke H Schuurs-Hoeijmakers
Jay Shendure
Holly A Stessman
Jean Steyaert
Lisenka ELM Vissers
Anneke T Vulto-van Silfhout
Kali Witherspoon
Bo Xiong
Publication date
1 July 2014
Publisher
'Elsevier BV'
Doi
Cite
Abstract
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 controls, including 2,289 unaffected siblings. In addition to a high likelihood of an ASD diagnosis among patients bearing CHD8 mutations, characteristics enriched in this group included macrocephaly, distinct faces, and gastrointestinal complaints. chd8 disruption in zebrafish recapitulates features of the human phenotype, including increased head size as a result of expansion of the forebrain/midbrain and impairment of gastrointestinal motility due to a reduction in postmitotic enteric neurons. Our findings indicate that CHD8 disruptions define a distinct ASD subtype and reveal unexpected comorbidities between brain development and enteric innervation.publisher: Elsevier articletitle: Disruptive CHD8 Mutations Define a Subtype of Autism Early in Development journaltitle: Cell articlelink: http://dx.doi.org/10.1016/j.cell.2014.06.017 content_type: article copyright: Copyright © 2014 Elsevier Inc. All rights reserved.status: publishe
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Last time updated on 10/12/2019