- What is Angelman Sydrome, and what are the causes of Angelman Syndrome?
gene UBE3A, which is inherited from both parents, however, only the maternal UBE3A gene is active in some areas of the
brain. Therefore, if the maternal copy is inactivated or is missing, they will have no active UBE3A genes in the brain, and so
the individual will have Angelman Syndrome.
The most common cause of Angelman syndrome is when a segment of the maternal 15th chromosome that holds the UBE3A gene is absent. Other causes include:
- Inheriting two paternal chromosome 15's instead of inheriting one paternal and one maternal
- A mutation in the maternal UBE3A gene or in the DNA that controls the activation of the gene
- A rearrangement of segments between chromosomes (Angelman Syndrome, 2015)
- Detecting Angelman syndrome Prenatally
- How many people have AS?
- Physical and cognitive traits associated with AS
- Life Expectancy
- Treatment
- Canadian Angelman Syndrome Society
- Research