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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.
Inherited mutations in the prion protein gene (PRNP) cause the familial form of prion disease. This prion gene provides instructions to your cells regarding how to make the prion protein. In fCJD, the mutations in this gene cause the cells to produce an abnormal form of the prion protein instead of the normal form.ike sCJD, sFI is caused by a misfolded protein, but also like sCJD, what causes that protein to misfold is unknown. Symptoms include difficulty falling asleep (insomnia), difficulty walking, weight loss and excessive tears in the eye. The symptoms rapidly progress to loss of consciousness and death.