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Title: Disruptive CHD8 Mutations Define a Subtype of Autism Early in Development
Authors: 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 #
Issue Date: Jul-2014
Publisher: MIT Press
Series Title: Cell vol:158 issue:2 pages:263-76
Article number: S0092-8674(14)00749-1
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.
URI: 
ISSN: 0092-8674
Publication status: published
KU Leuven publication type: IT
Appears in Collections:Department of Human Genetics - miscellaneous
Research Group Psychiatry
× corresponding author
# (joint) last author

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