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 our full CHD8 gene guide

The online Gene Guide includes more information about CHD8 such as the chance of having another child with this condition, behavior and development concerns linked to CHD8-related syndrome or specialists to consider for people with this condition. Share this resource with family members or your clinical providers.

CHD8-related syndrome is also called CHD8-related neurodevelopmental disorder with overgrowth. For this guide, we will be using the name CHD8-related syndrome to encompass the wide range of variants observed in the people identified.

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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
Speech delay
Characteristic facial profile
Gastrointestinal issues, mostly constipation
Sleep issues
Seizures
Attention problems

How many people have CHD8-related syndrome?

As of 2024, at least 163 people with CHD8-related syndrome have been identified in a medical clinic. Just over 115 people have been described in detail in medical publications. The first case of CHD8-related syndrome was described in 2012.

Support Resources

Simons Searchlight Community – CHD8 Facebook group
CHD8 Family Group – Closed Facebook Group
Geisinger Developmental Brain Disorder Gene Database – CHD8

GeneReviews

GeneReviews are a great resource to bring to your child’s clinicians. These publications provide a summary of current research on genetic conditions and information on ongoing care.

Here is the GeneReview for CHD8.

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.

Full versions of published research articles can be found on PubMed. PubMed is a National Institutes of Health (NIH) online database that is free. It has a collection of both medical and scientific research articles. A PubMed search for CHD8 articles can be found here.

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.

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.

External Research Opportunity: FaceMatch

FaceMatch is a platform that helps parents and doctors contribute to an international secure image database of both undiagnosed and diagnosed children across the globe. *This study is not affiliated with Simons Searchlight. Learn more about FaceMatch.

Family Stories

Stories from CHD8 families:

Click here to share your family’s story!

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