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Most cases of Angelman syndrome (about 70 percent) occur when a segment of the maternal chromosome 15 containing this gene is deleted. In other cases (about 11 percent), Angelman syndrome is caused by a mutation in the maternal copy of the UBE3A gene.In a small percentage of cases, Angelman syndrome results when a person inherits two copies of chromosome 15 from his or her father (paternal copies) instead of one copy from each parent.ost cases of Angelman syndrome are not inherited, particularly those caused by a deletion in the maternal chromosome 15 or by paternal uniparental disomy. These genetic changes occur as random events during the formation of reproductive cells (eggs and sperm) or in early embryonic development.
A mutation is a change in the base sequence of DNA that can affect the structure and function of proteins when they occur within a gene. Mutations can be spontaneously caused by copying errors during DNA replication or induced by exposure to external elements such as chemical mutagens, radiation or viruses. Cystic fibrosis is an example of a disease which can result from a nonsense mutation (this may not be the only cause though). 2  Frameshift mutations occur when the addition or removal of a base alters the reading frame of the gene.