CTCF-related disorder (CRD) is a condition that affects how the brain and body develop and function. It is caused by a change (variant) in a gene called CTCF, which plays an important role in controlling how the body’s genetic instructions are used during growth and development.
People with CRD may experience delays in learning and development, challenges with speech and motor skills, and differences in behavior. Some individuals may also have differences in growth, muscle tone, or physical features. The condition can affect different parts of the body, but the range and severity of features vary widely — every person with CRD is unique.
Common features can include:
• Developmental delays or learning differences
• Speech and language delays
• Differences in behavior, which may include traits seen in autism spectrum disorder, attention difficulties, or anxiety
• Low muscle tone (hypotonia) and delayed motor skills
• Feeding difficulties in infancy or childhood
• Differences in growth, such as smaller head (microcephaly) or shorter stature
• Distinct facial features, which may be subtle
• Sometimes, congenital differences in the heart, kidneys, bones, or other body systems
Importantly, not everyone with CRD will experience all of these features. The condition can look very different from one person to another. Some individuals have milder challenges and lead independent lives with support.
How common is it?
CRD is considered rare, but the exact number of affected individuals is not yet known. As more people undergo genetic testing, new cases are being identified and our understanding of CRD is growing.
How does it happen?
CRD is usually caused by a new change (de novo mutation) in the CTCF gene, which happens by chance during the formation of egg or sperm cells or in early development. This means that in most cases, the condition is not inherited from a parent and is unlikely to occur again in future pregnancies. In rare cases, the gene change may be inherited from a parent.
A genetic counselor can help families understand the inheritance pattern, risks for future pregnancies, and options for family planning.
CTCF