About Angelman Syndrome
What is Angelman Syndrome?
Angelman syndrome is a single-gene disorder caused by the loss of function in the UBE3A gene on the maternal 15th chromosome. People have two sets of chromosomes – one inherited from their mother and one from their father. In a typical person, the maternally inherited UBE3A gene is active, while the copy of the gene inherited from the father is silenced in the neurons in our brains – a phenomenon known as imprinting.
For people with AS, the UBE3A protein is not being produced due to the faulty gene and this is what what triggers the symptoms of AS. This protein is what helps us walk, talk and perform other everyday tasks.
There are several causes of AS, but the vast majority of cases are caused by a sporadic (non inherited) deletion of the UBE3A gene on the maternal chromosome.
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