Below is a summary for the CTCF gene observed in research publications. This is not meant to take the place of medical advice.

Click here for our full CTCF Gene Guide

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

What is CTCF-related syndrome?

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

Key Role

The CTCF gene plays a key role in the growth of the brain and the body. The CTCF gene helps to control other genes in the brain.


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

  • Developmental delay
  • Intellectual disability
  • Autism and other behavior concerns

How many people have CTCF-related syndrome?

As of 2019, about 46 people in the world with changes in the CTCF gene had been described in the medical literature. The first case of CTCF-related syndrome was described in 2013. Scientists expect to find more people who have the syndrome as access to genetic testing improves.


Support Resources



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.

There is currently no GeneReviews for CTCF.


Research Article Summaries

We currently do not have any article summaries for CTCF, but we add resources to our website as they become available.

The information available about CTCF is limited, and families and doctors share a critical need for more information. As we learn more from children who have this gene change, we expect our 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 CTCF articles can be found here.

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


Research Opportunities

Simons Searchlight

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


Family Stories

We do not currently have any stories from CTCF families.

Click here to share your family’s story!