Below is a summary for the PHF3 gene observed in research publications. This is not meant to take the place of medical advice.
What is PHF3-related syndrome?
Because PHF3 is so new in autism, we don’t have specific information on what medical problems you might expect now and in the near future. We can tell you that PHF3 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 PHF3 gene?
No parent causes their child’s de novo genetic change. We know this because no parent has any control over the genetic 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 genetic change takes place on its own and cannot be predicted or stopped.
How many people have a de novo gene change in the PHF3 gene?
As of 2019, researchers had found 7 people in the world with autism or neurodevelopmental disorders and changes in the PHF3 gene.
How are people who have changes in PHF3 treated?
Scientists and doctors have only just begun to study people who have changes in the PHF3 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.
Research Article Summaries