CTCF-related disorder is caused by a change (called a mutation or variant) in a gene called CTCF. This gene helps control how DNA is organized and how genes are turned on and off during development.
The CTCF gene acts like a "genetic organizer" — it helps fold and arrange DNA properly inside the cell’s nucleus so that genes work in the right way at the right time.
When one copy of this gene is changed (everyone has two copies), the body may not be able to fully perform this organizing function. This can affect how the brain and body develop.
There are many different types of changes that can affect CTCF:
• Some changes cause the gene to stop working (called loss-of-function).
• Some changes alter how the gene’s protein works (missense mutations).
• Rarely, larger changes in the chromosome can involve extra or missing copies of CTCF (called copy-number variations).
In most cases, these changes happen by chance and are not inherited. They occur very early in development.
Research is ongoing to better understand how different types of CTCF changes lead to the many possible features of CRD. Families can talk with a genetic counselor to better understand the specific gene change in their child.
CTCF