Below is a summary for the CTCF gene observed in research publications. This is not meant to take the place of medical advice.
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.
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
Do people who have CTCF-related syndrome look different?
About one-half of those who have CTCF-related syndrome have a small head. Otherwise, people who have CTCF-related syndrome do not look very different.
Research Article Summaries