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:

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:


Support Resources



GeneReviews are a great resource to bring to your child’s clinicians. These publications provide a summary of current research on genetic conditions and information on ongoing care.

There is currently no GeneReviews for CAPRIN1.


Research Article Summaries

We currently do not have any article summaries for CAPRIN1, but we add resources to our website as they become available.

The information available about CAPRIN1 is limited, and families and doctors share a critical need for more information. As we learn more from children who have this gene change, we expect our list of resources and information to grow.

Full versions of published research articles can be found on PubMed. PubMed is a National Institutes of Health (NIH) online database that is free. It has a collection of both medical and scientific research articles. A PubMed search for CAPRIN1 articles can be found here.

You can also visit the Simons Foundation’s SFARI Gene website to see information for researchers about this gene.


Research Opportunities

Simons Searchlight

Help the Simons Searchlight team learn more about CAPRIN1 genetic changes by taking part in our research. You can learn more about the project and sign up here.


Family Stories

We do not currently have any stories from CAPRIN1 families.

Click here to share your family’s story!