Parents

Changes that cause disease in the POLR2A gene are rare. To date, there are less than 30 cases reported. While most cases are de novo (meaning they are new changes unique to the patient, not inherited from a parent), it is possible to inherit a change in this gene from a parent. One copy of the changed gene is enough to show symptoms, meaning it is a dominant condition. A parent with a dominant condition will have a 50/50 chance of passing the change on to their children.
People with this condition will show symptoms throughout their lifetime from birth into adulthood. There are management options for symptoms such as seizures and some with this condition can live independently as adults.