title: [Progress in autism: de novo mutation and CHD8 functions].
abstract: Autism or autism spectrum disorders is the most common central nervous system developmental disorder in children. Until now, there is still no effective drug for autism. The latest breakthrough advance in autism study is the discovery of autism-related gene de novo mutation by the whole exon sequencing. Among multiple de novo gene mutations identified in autism, the chromodomain helicase DNA-binding protein 8 (CHD8) is the most frequently mutated gene, suggesting that CHD8 is an important candidate gene for autism. CHD8 binds to various other proteins such as p53 and beta-catenin to regulate gene expression. The discovery of autism-candidate genes provides novel molecular targets for the diagnosis and treatment of autism.
authors.forename: Xin-Xin
authors.initials: XX
authors.lastname: Xiong
authors.forename: Miao
authors.initials: M
authors.lastname: He
authors.forename: Xiao-Qian
authors.initials: XQ
authors.lastname: Chen
mesh_terms: D000067877:Autism Spectrum Disorder; D001321:Autistic Disorder; D004268:DNA-Binding Proteins; D005091:Exons; D015870:Gene Expression; D006801:Humans; D009154:Mutation; D014157:Transcription Factors
chemical_list: C523331:CHD8 protein, human; D004268:DNA-Binding Proteins; D014157:Transcription Factors