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Characteristics and clinical features:

CHD8 is one of the genes most commonly mutated in people with autism. People with these mutations often share certain characteristics, such as wide-set eyes, a large head, serious sleep problems and gastrointestinal issues. Mutations in the gene are tightly linked to autism: Nearly everyone with a mutation in CHD8 has autism.


CHD8’s job is to help pack DNA into chromosomes. It regulates activity of other genes, including many autism-linked genes, by controlling how tightly the DNA is wound. Scientists don’t know exactly why mutations in CHD8 lead to autism. But research in mice suggests the gene is important for brain development, specifically the growth of new neurons. Most cases are de novo, meaning that the individual’s parents do not carry the mutation.


CHD8 was first linked to autism in a 2012 study — scientists discovered mutations in the gene in 9 people with autism.

Additional resources:

News stories from Spectrum:

Spectrum provides comprehensive news and analysis of advances in autism research. Funding for Spectrum comes from the Simons Foundation Autism Research Initiative (SFARI), but the team is editorially independent.