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Updated: Apr 23, 2026

A Strategy to Identify de Novo Mutations in Common Disorders such as Autism and Schizophrenia
Published on: June 15, 2011
[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.
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