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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.
It has been known for sometime that the rare Prader-Willi and Angelman syndromes are due to variations in genomic imprinting at the proximal long arm of chromosome 15 (reviewed in 57). There is also an initial report of genomic imprinting, playing a role in common obesity at three different genomic loci (58).