Below is a summary for the ANK2 gene observed in research publications. This is not meant to take the place of medical advice.
What does the ANK2 gene do?
ANK2 plays an important role in brain development and is associated with autism. The gene is also likely associated with language and learning.
How many people have a de novo gene change in ANK2?
As of 2019, researchers had found fewer than 10 people in the world with autism or neurodevelopmental disorders and changes in the ANK2 gene. The first case of this condition was found in 2012. Scientists expect to find more people who have the condition as access to genetic testing improves.
How are people who have changes in ANK2 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 ANK2 gene look different?
We do not yet know if people who have de novo genetic changes in the ANK2 gene look consistently different from others.
Learn more about the ANK2 gene and connect with other Simons Searchlight families with the resources below:
Research Article Summaries