CAPRIN1

The information for this summary of CAPRIN1-related syndrome comes from research publications. This is not meant to take the place of medical advice.

Click here for our full CAPRIN1 Gene Guide

The online Gene Guide includes more information about CAPRIN1 such as the chance of having another child with this condition, behavior and development concerns linked to CAPRIN1-related syndrome or specialists to consider for people with this condition. Share this resource with family members or your clinical providers.

CAPRIN1-related syndrome is also called neurodevelopmental disorder with language impairment, autism, and attention deficit hyperactivity disorder or childhood-onset neurodegeneration with cerebellar ataxia and cognitive decline. For this webpage, we will be using the name CAPRIN1-related syndrome to encompass the wide range of variants observed in the people identified.

What is CAPRIN1-related syndrome?

CAPRIN1-related syndrome happens when there are changes in the CAPRIN1 gene. These changes can keep the gene from working as it should.

Key Role

CAPRIN1 plays a key role in brain development, and new changes in this gene can have a meaningful effect.

Symptoms

Because the CAPRIN1 gene is important for brain activity, many people who have CAPRIN1-related syndrome have:

  • Developmental delay
  • Intellectual disability
  • Language delay
  • Seizures
  • Movement issues, such as tremor, ataxia, or loss of walking
  • Brain changes observed on magnetic resonance imaging (MRI)
  • Autism
  • Anxiety
  • Attention-deficit/hyperactivity disorder (ADHD)
  • Vision issues
  • Scoliosis (sideways curvature of the spine)

How many people have a de novo gene change in CAPRIN1?

As of 2024, about 13 people with CAPRIN1-related syndrome have been identified in medical research. 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.

Learn more about the CAPRIN1 gene and connect with other Simons Searchlight families with the resources below:

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Support Resources

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GeneReviews

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.

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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.

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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.

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Family Stories

We do not currently have any stories from CAPRIN1 families.

Click here to share your family’s story!