What Is Angelman Syndrome?
Reviewed: Dr. Gromatzky
2. Cause
The underlying cause of Angelman syndrome is a gene that is defective or missing altogether. The responsible gene is known as ubiquitin protein ligase E3A (UBE3A), which is found on chromosome 15. Problems can occur when information from the parent’s DNA is shared and is not always copied over as it should be.
Usually, only the paternal (from the father) copy of the gene in the brain is active. Angelman syndrome is usually caused when this is damaged or missing altogether. In a smaller number of cases, the condition is caused when there are two paternal (from the father) copies of the gene.
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