CIC (capicua) is a gene that helps control how the body develops, especially the brain. It also plays a role in preventing cells from growing out of control, which helps protect against cancer.
When there is a mutation (change) in the CIC gene, it can cause a neurodevelopmental disorder. This means that the brain may not develop or function as expected.
Children or individuals with a CIC mutation may experience some or all of the following:
Developmental delay or intellectual disability (ID)
Seizures
Attention deficit/hyperactivity disorder (ADHD)
Autism spectrum disorder (ASD)
Speech or language delays
Motor impairments (delays in movement skills like crawling, walking, or coordination)
CIC mutations are point mutations—small changes in the DNA code.
They are usually found through genetic testing, which involves sequencing a person’s DNA.
The condition follows an autosomal dominant inheritance pattern, which means only one copy of the changed gene (from either parent) can cause the disorder.
If someone has a CIC mutation, there is a 50% chance it could be passed to their children.
Yes. Sometimes a CIC mutation can happen de novo, meaning it arises spontaneously in the egg or sperm before a child is conceived. In these cases, neither parent carries the mutation in their own DNA.
Other times, a parent might carry the mutation in only some of their cells, especially in their eggs or sperm. This is called mosaicism and can make it harder to detect in standard genetic testing. Mosaicism may still result in the mutation being passed on to children.
If a child has a CIC mutation, doctors may recommend the following:
Clinical Exams and Tests:
Cognitive and behavioral testing by a pediatric psychiatrist
Autism-specific assessments, such as the ADI-R and ADOS, done by a certified psychologist
Speech-language evaluation by a speech pathologist
EEG (electroencephalogram) to check for unusual brain activity that may lead to seizures
Brain MRI to look at brain structure
Therapies That May Help:
Speech therapy to support communication skills
Physical therapy to help with movement and coordination
Occupational therapy to support daily living skills and sensory processing
More information regarding CIC and the genetic syndrome associated with CIC mutations may be found on the Online Mendelian Inheritance in Man.
A mother's blog on her child's journey From Well to Sick to CIC.
A Facebook group for CIC patient families: CIC Gene Families.