Below is a summary for the CAPRIN1 gene observed in research publications. This is not meant to take the place of medical advice.
What does the CAPRIN1 gene do?
CAPRIN1 interacts with another gene called FMR1, which causes fragile X syndrome. People who have fragile X syndrome also often have autism.
New changes (de novo) can take place in any gene. We all have some new changes, most of which don’t affect our health. But because CAPRIN1 plays a key role in brain development, new changes in this gene can have a meaningful effect.
How many people have a de novo gene change in CAPRIN1?
As of 2019, researchers had found fewer than 10 people in the world with autism or neurodevelopmental disorders and changes in the CAPRIN1 gene. The first case of this condition was found in 2013. Scientists expect to find more people who have the syndrome as access to genetic testing improves.
How are people who have changes in CAPRIN1 treated?
A developmental pediatrician, neurologist, or psychologist can follow progress over time and can help:
- Suggest the right therapies. This can include physical, occupational, speech, or behavioral therapy.
- Guide individualized education plans (IEPs).
If seizures happen, consult a neurologist. There are many different types of seizures, and not all types are easy to spot. To learn more, you can refer to resources such as the Epilepsy Foundation’s website: www.epilepsy.com/learn/types-seizures.
Do people who have de novo changes in the CAPRIN1 gene look different?
We do not yet know if people who have de novo changes in the CAPRIN1 gene look consistently different from others.
Learn more about the CAPRIN1 gene and connect with other Simons Searchlight families with the resources below:
Research Article Summaries