Below is a summary for the SHANK2 gene observed in research publications. This is not meant to take the place of medical advice. Click HERE for the full gene guide, which includes more information, such as chance of having another child with this condition, or specialists to consider for people with this condition.
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