CHD2
Below is a summary of the CHD2 gene observed in research publications. This is not meant to take the place of medical advice.
Click here for our full CHD2 gene guide
The online Gene Guide includes more information about CHD2 such as the chance of having another child with this condition, behavior and development concerns linked to CHD2-related syndrome or specialists to consider for people with this condition. Share this resource with family members or your clinical providers.
CHD2-related syndrome is also called developmental and epileptic encephalopathy 94. For this guide, we will be using the name CHD2-related syndrome to encompass the wide range of variants observed in the people identified.
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What is CHD2-related syndrome?
CHD2-related syndrome happens when there are changes to the CHD2 gene. These changes can keep the gene from working as it should.
Key Role
The CHD2 gene plays a key role in the brain and body.
Symptoms
Many people who have CHD2-related syndrome have:
- Developmental delay, intellectual disability
- Autism spectrum disorder or symptoms of autism
- Epilepsy that starts at a young age
- Behavioral challenges
How many people have CHD2-related syndrome?
As of 2024, at least 307 people with CHD2-related syndrome have been identified in a medical clinic.
Support Resources
- Simons Searchlight Community – CHD2 Facebook group
- Coalition to Cure CHD2 (CCC) website – CureCHD2.org
- Coalition to Cure CHD2 (CCC) Facebook group – www.facebook.com/groups/chd2support
- CHD2 Research Group – Closed Facebook Group (a community group)
- Geisinger Developmental Brain Disorder Gene Database – CHD2
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.
Check out the GeneReviews for CHD2.
Research Article Summaries
Below, we have summarized research articles about changes in the CHD2 gene. We hope you find this information helpful.
The information available about CHD2 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 CHD2 articles can be found here.
You can also visit the Simons Foundation’s SFARI Gene website to see information for researchers about this gene.
De novo loss-of-function mutations in CHD2 cause a fever-sensitive myoclonic epileptic encephalopathy sharing features with Dravet Syndrome
Original research article by A. Suls et al. (2013).
Read the abstract here or the Simons Searchlight summary here.
De novo mutations in the classic epileptic encephalopathies
Original research article by Epi4K and EPGP investigators.
Read the article here and read the Simons Searchlight summary here.
CHD2 haploinsufficiency is associated with developmental delay, intellectual disability, epilepsy and neurobehavioural problems
Original research article by S. Chénier et al. (2014).
Read the abstract here and read the Simons Searchlight summary here.
Research Opportunities
Simons Searchlight
Help the Simons Searchlight team learn more about CHD2 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 CHD2.
Click here to learn more about this opportunity.