Below is a summary for the CACNA1C gene observed in research publications. This is not meant to take the place of medical advice.
What is CACNA1C-related syndrome?
CACNA1C-related syndrome happens when there are changes in the CACNA1C gene. These changes can keep the gene from working as it should.
Genetic variants in CACNA1C can cause Brugada syndrome, Long QT syndrome, or Timothy syndrome.
The CACNA1C gene plays an important role in brain cell communication and muscle contraction. It also plays a role in the heart, lungs, and smooth muscle.
Because the CACNA1C gene is important for many different parts of the body, many people may have:
- Developmental delay
- Low muscle tone
- Speech issues
- Walking and movement issues
- Impaired intellectual development
- Heart structure or function problems
Do people who have CACNA1C-related syndrome look different?
People who have CACNA1C-related syndrome may look different. Appearance can vary and can include some but not all of these features:
- Ear defects
- Eye issues and or wide-set eyes
- Thin upper lip
- Teeth problems
- Changes in facial features, which might not be the same in every person
How many people have CACNA1C-related syndrome?
As of 2022, at least 51 people in the world with a CACNA1C genetic variant have been described in medical research.
Research Article Summaries