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: www.epilepsy.com/learn/types-seizures.
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.
Research Article Summaries