A novel PTEN gene promoter mutation and untypical Cowden syndrome

(整期优先)网络出版时间:2013-03-13
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Cowdensyndrome(CS),anautosomaldominantdisorder,isoneofaspectrumofclinicaldisordersthathavebeenlinkedtogermlinemutationsinthephosphataseandtensinhomolog(PTEN)gene.Although70-80%ofpatientswithCShaveanidentifiablegermlinePTENmutation,theclinicaldiagnosispresentsmanychallengesbecauseofthephenotypicandgenotypicvariations.Inthepresentstudy,wesequencedtheexonsandthepromoterofPTENgene,mutationsandvariationsinthepromoterandexonswereidentified,andaPTENproteinexpressionnegativeregionwasdeterminedbyimmunohistochemistry(IHC).Inconclusion,anovelpromotermutationwefoundinPTENgenemayturnoffPTENproteinexpressionoccasionally,leadingtothedisorderofPTENanduntypicalCSmanifestations.