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(For our list of subjects with an imprinting defect, click here.). UBE3A Mutation. Malfunction of the UBE3A gene on the maternal chromosome #15 seems to be the cause of Angelman syndrome. In the case of a UBE3A mutation, there is a mistake in the genetic code of the UBE3A gene.
The most common cause of Angelman syndrome is a deletion of the maternal chromosome region 15q11-q13, which includes the UBE3A gene. Importantly, mutations and deletions of the UBE3A gene are sufficient to cause Angelman syndrome, making UBE3A the single gene responsible for the core symptoms of the disorder. Two major deletion classes known as class I and class II deletions in the 15q11-q13 region both cause Angelman syndrome.