Below is a summary for the RFX3 gene observed in research publications. This is not meant to take the place of medical advice.
What is the RFX3 gene?
Because RFX3 is so new in autism, we don’t have specific information on what medical issues you might expect now and in the near future. We can tell you that RFX3 plays an important role in brain development and is associated with autism. The gene is also likely associated with language and learning.
Why does my child have a change in the RFX3 gene?
No parent causes their child’s changes in RFX3. We know this because no parent has any control over the gene changes that they do or do not pass on to their children. Please keep in mind that nothing a parent does before or during the pregnancy causes this to happen. The gene change takes place on its own and cannot be predicted or stopped.
How many people have a de novo gene change in RFX3?
As of 2019, researchers had described about six people in the world with autism or neurodevelopmental disorders and changes in the RFX3 gene. The first case of this condition was found in 2015. Scientists expect to find more people who have the syndrome as access to genetic testing improves.
How are people who have changes in RFX3 treated?
Scientists and doctors have only just begun to study people who have changes in the RFX3 gene. At this point, there are no medicines designed to treat the condition. A genetic diagnosis can help people decide on the best way to track the condition and manage therapies. Doctors can refer people to specialists for:
- Physical exams and brain studies.
- Genetics consults.
- Developmental and behavior studies.
- Other issues, as needed.
Research Article Summaries