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§ Definition and Cause of Disorder
o The gene believed to be affected by Proteus syndrome is a dominant lethal gene, which is believed to be found in the PTEN gene.
o When the gene is affected, germline and tissue-specific somatic mutations occur with in the PTEN gene.
o Scientists aren’t completely sure about where it occurs but most agree that it is most likely chromosome 10 or 16.
o The PTEN gene acts as part of a chemical pathway that signals cells to stop dividing and causes cells to undergo programmed cell death (apoptosis) when necessary. These functions prevent uncontrolled cell growth that can lead to the formation of tumors. When the gene is mutated, tumors can occur and cancer.
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