Ontology highlight
ABSTRACT:
SUBMITTER: Wilkinson B
PROVIDER: S-EPMC4471293 | biostudies-literature | 2015 May
REPOSITORIES: biostudies-literature
Translational psychiatry 20150519
Chromodomain helicase DNA-binding protein 8 (CHD8) was identified as a leading autism spectrum disorder (ASD) candidate gene by whole-exome sequencing and subsequent targeted-sequencing studies. De novo loss-of-function mutations were identified in 12 individuals with ASD and zero controls, accounting for a highly significant association. Small interfering RNA-mediated knockdown of CHD8 in human neural progenitor cells followed by RNA sequencing revealed that CHD8 insufficiency results in altere ...[more]