Below is a summary for the SHANK2 gene observed in research publications. This is not meant to take the place of medical advice.
What is SHANK2-related syndrome?
SHANK2-related syndrome happens when there are changes to the SHANK2 gene. These changes can keep the gene from working as it should.
The SHANK2 gene plays a key role in communication between brain cells. SHANK2 is closely related to SHANK3, another well-known autism risk gene. There are hundreds of autism risk genes and none of them account for a large number of cases. But SHANK3 is one of the more common autism risk genes, with some studies estimating that up to 1% of people who have autism have changes in SHANK3.
Because the SHANK2 gene is important in the development and function of brain cells, many people who have SHANK2-related syndrome have:
- Intellectual disability
Do people who have SHANK2-related syndrome look different?
People who have SHANK2-related syndrome do not look very different.
Research Article Summaries