Below is a summary for the CASZ1 gene observed in research publications. This is not meant to take the place of medical advice.

What does the CASZ1 gene do?

CASZ1 controls other genes that play a key role in brain development.


How many people have a de novo gene change in CASZ1?

As of 2019, researchers had found less than 10 people in the world with autism or neurodevelopmental disorders and changes in the CASZ1 gene. 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.

How are people who have changes in CASZ1 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 CASZ1 gene look different?

We do not yet know if people who have de novo changes in the CASZ1 gene look consistently different from others.


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 CASZ1.


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.


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.


Family Stories

We do not currently have any stories from CASZ1 families.

Click here to share your family’s story!