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 the full gene guide, which includes more information, such as the chance of having another child with this condition, or specialists to consider for people with this condition.

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
Short height and a small head

Do people who have CHD2-related syndrome look different?

In general, people who have CHD2-related syndrome do not look very different. They may be short and have a small head.

BEHAVIOR

6 out of 15 have autism.
8 out of 11 have behavior issues, most often aggression.

BRAIN

9 out of 12 have seizures that are caused by flashing lights.
4 out of 16 people did not have seizures for 2 to 5 years when they were taking medicine.

GROWTH

One half of people who have the syndrome are short.

Support Resources

Simons Searchlight Community – CHD2 Facebook group
CCC Coalition to Cure CHD2 website – CureCHD2.org
CHD2 Research Group – Closed Facebook Group
Read more about this group, here.
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.

Targeted resequencing in epileptic encephalopathies identifies de novo mutations in CHD2 and SYNGAP1

Original research article by G. Carvil et al. (2013).

Read the article 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.