CASZ1

The information for this summary of CASZ1-related syndrome comes from research publications. This is not meant to take the place of medical advice.

Click here for our CASZ1 Gene Guide

The online Gene Guide includes more information about CASZ1 such as the chance of having another child with this condition, behavior and development concerns linked to CASZ1-related syndrome or specialists to consider for people with this condition. Share this resource with family members or your clinical providers.

What is CASZ1-related syndrome?

CASZ1-related syndrome happens when there are changes in the CASZ1 gene. These changes can keep the gene from working as it should. 

 

Key Role

CASZ1 controls other genes that play a key role in brain, heart, and kidney development. 

Symptoms

Because the CASZ1 gene is important for brain activity, many people who have CASZ1-related syndrome have: 

  • Developmental delay 
  • Intellectual disability 
  • Autism 
  • Heart defects

How many people have CASZ1-related syndrome?

As of 2024, over 20 people with CASZ1-related syndrome have been identified in large-scale research studies. The first case of this condition was found in 2017. Scientists expect to find more people who have the syndrome as access to genetic testing improves.

Learn more about the CASZ1 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 CASZ1.

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Research Article Summaries

We currently do not have any article summaries for CASZ1, but we add resources to our website as they become available.

The information available about CASZ1 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 CASZ1 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 CASZ1 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 CASZ1 families.

Click here to share your family’s story!