CHD8

Below is a summary for the CHD8 gene observed in research publications. This is not meant to take the place of medical advice. Click HERE for the full gene guide, which includes more information, such as chance of having another child with this condition, or specialists to consider for people with this condition.

What is CHD8-related syndrome?

CHD8-related syndrome happens when there are changes to the CHD8 gene. These changes can keep the gene from working as it should.

Key Role

The CHD8 gene plays a key role in brain growth and function.

Symptoms

Because the CHD8 gene is important in the development and function of brain cells, many people who have CHD8-related syndrome have:

  • Developmental delay, intellectual disability, or both
  • Autism or features of autism
  • Characteristic facial profile
  • Gastrointestinal problems
  • Sleep problems
  • Seizures
  • Attention problems
  • Obesity

Do people who have CHD8-related syndrome look different?

People who have CHD8-related syndrome may look different. Appearance can vary and can include some but not all of these features:

  • Large forehead
  • Wide-set eyes
  • Broad nose
  • Pointed chin
BEHAVIOR and DEVELOPMENT

13 out of 15 have autism, 10 out of 15 have sleep problems, and 9 out of 15 have intellectual disability.

GROWTH

12 out of 14 are tall for their age.

DIGESTION

12 out of 15 have gastrointestinal problems.

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Support Resources

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Research Article Summaries

Below, we have summarized research articles about changes in the CHD8 gene. We hope you find this information helpful.

The information available about CHD8 is limited, and families and doctors share a critical need for more information. As we learn more from children who have a change in this gene, we expect this list of resources and information to grow.

You can also visit the Simons Foundation’s SFARI Gene website to see information for researchers about this gene.

 

CHD8 intragenic deletion associated with autism spectrum disorder

Original research article by E.S. Stolerman et al. (2016).

Read the abstract here and the Simons Searchlight summary here.

 

Disruptive CHD8 mutations define a subtype of autism early in development

Original research article by R. Bernier et al. (2014).

Read the article here and the Simons Searchlight summary here.

 

Sporadic autism exomes reveal a highly interconnected protein network of de novo mutations

Original research article by B. O’Roak et al. (2012).

Read the article here and the Simons Searchlight summary here.

 

Multiplex targeted sequencing identifies recurrently mutated genes in autism spectrum disorders

Original research article by B. O’Roak et al. (2012).

Read the abstract here and the Simons Searchlight summary here.

 

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Research Opportunities

Simons Searchlight

Help the Simons Searchlight team learn more about CHD8 genetic changes by taking part in our research. You can learn more about the project and sign up here.

 

TIGER Study

The University of Washington’s Autism Center seeks to better understand the medical, learning, and behavioral features of people with changes in CHD8.

Click here to learn more about this opportunity.

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Family Stories

Stories from CHD8 families:

Click here to share your family’s story!