Angelman Syndrome (AS) is a genetic disorder that is typically passed from parent to child. It is caused by a genetic mutation, which can be inherited from either parent. In some cases, the mutation may be spontaneous, meaning it occurred in the egg or sperm that created the affected individual.
In families with a known mutation, the risk of recurrence is estimated to be between 5 and 15 percent with each pregnancy. Most cases of AS are caused by a deletion or mutation of a gene on chromosome 15, which is passed down from either parent. This type of genetic mutation is called a "de novo mutation," meaning it was not inherited from either parent.
In some cases, the genetic mutation responsible for Angelman Syndrome is not inherited, but is instead a spontaneous mutation that occurred in the egg or sperm that created the affected individual. In this situation, the risk of passing the condition on to future generations is extremely low.
In cases where the mutation is inherited, the risk of passing the disorder to future generations depends on the type of mutation. If the mutation is an inherited deletion, the risk is higher than if the mutation is a point mutation or a mutation in a regulatory region. In these cases, the risk of passing the disorder to future generations is more uncertain.
In summary, Angelman Syndrome can be passed to future generations, but the risk depends on the type of mutation present. In most cases, the risk is low, but for families with a known inherited mutation, the risk can be higher. For this reason, it is important for families to seek genetic counseling to help them understand their risk and to make informed decisions.