BRSK2

Below is a summary for the BRSK2 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 BRSK2-Related Syndrome?

BRSK2-related syndrome happens when there are changes to the BRSK2 gene. These changes can keep the gene from working as it should.

Key Role

The BRSK2 gene plays a key role in brain development.

Symptoms

Because the BRSK2 gene is important in the development and function of brain cells, many people who have BRSK2-related syndrome have:

Developmental delay
Intellectual disability
Autism
Motor delay

Do people who have BRSK2-related syndrome look different?

People who have BRSK2-related syndrome do not look very different.

LEARNING

Most have mild to severe intellectual disability.

SPEECH and BEHAVIOR

9 out of 9 had issues with speech.
8 out of 9 had autism.

Support Resources

Simons Searchlight Community – BRSK2 Facebook group

Research Article Summaries

We currently do not have any article summaries for BRSK2, but we add resources to our website as they become available.

The information available about BRSK2 is limited, and families and doctors share a critical need for more information. As we learn more from children who have this gene change, we expect our list of resources and information to grow.

Full versions of published research articles can be found on PubMed. PubMed is a National Institutes of Health (NIH) online database that is free. It has a collection of both medical and scientific research articles. A PubMed search for BRSK2 articles can be found here.

You can also visit the Simons Foundation’s SFARI Gene website to see information for researchers about this gene.

Research Opportunities

Simons Searchlight

Help the Simons Searchlight team learn more about BRSK2 genetic changes by taking part in our research. You can learn more about the project and sign up here.

Family Stories

We do not currently have any stories from BRSK2 families.

Click here to share your family’s story!