In this 19-minute video, Vishnu Cuddapah, MD from the Children’s Hospital of Philadelphia explains the genetic basics of ASXL-related disorders including what the ASXL genes are, what they do, and how changes to the ASXL genes can result in Bohring-Opitz Syndrome (ASXL1), Shashi-Pena Syndrome (ASXL2), or Bainbridge-Ropers Syndrome (ASXL3). Dr. Cuddapah explains what DNA and genes do, how gene expression works, the difference between de novo (new) and inherited genetic conditions, and provides an overview of each syndrome.
For a deeper explanation, the following resources are available:
- What causes ASXL-related disorders? (article)
- Epigenetics and ASXL-related disorders (article)
Published: August 2021
Additional related resources include:
- Understanding the ASXL genes (video)
- Epigenetics and ASXL-related disorders (article)
- What causes ASXL-related disorders? (article)
The information presented here is for educational purposes only. This information is not medical advice and should not be treated as such. You should always talk to your or your family member’s health care professionals for diagnosis and treatment, including information regarding which drugs or treatment may be appropriate for you or your family member. We do not represent or warrant that any particular treatment is safe, appropriate or effective for you or your family member. In the event of a medical emergency, you should contact your doctor immediately or call your local emergency service.
