Angelman Syndrome – Symptoms and Causes

9Gene Mutations

Gene mutations are a common cause of Angelman syndrome. It accounts for around 15 to 20 percent of cases. A mutation means that the UBE3A gene might have abnormal adjustments. This leads to the malfunction of the gene, which prevents it from functioninproperly. Other children might have the translocation or position switching between ABE3A and another gene or the inheritance of 2 paternal UBE3A. When a UBE3A mutation occurs, a mother with the disorder can have a 50 percent likeliness of passing the condition to her infant. [9]

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