Below is a summary for the ANK2 gene observed in research publications. This is not meant to take the place of medical advice.
What is ANK2 -related syndrome or Ankyrin-B syndrome?
ANK2 -related syndrome or Ankyrin-B syndrome happens when there are changes to the ANK2 gene. These changes can keep the gene from working as it should.
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.
Because the ANK2 gene is important in development, many people who have ANK2 -related syndrome have:
- Developmental delay
- Intellectual disability
- Speech impairment
- Behavior issues, including autism
- Cardiac issues
Do people who have ANK2 -related syndrome look different?
It is unknown if people with ANK2 -related syndrome look different.
How many people have ANK2 -related syndrome?
As of 2023, about 185 people with ANK2 -related syndrome have been identified in medical research. Fewer people have been described in medical detail.
Learn more about the ANK2 gene and connect with other Simons Searchlight families with the resources below:
Research Article Summaries