A novel PTEN gene promoter mutation and untypical Cowden syndrome-中国期刊网

摘要 Cowdensyndrome(CS),anautosomaldominantdisorder,isoneofaspectrumofclinicaldisordersthathavebeenlinkedtogermlinemutationsinthephosphataseandtensinhomolog(PTEN)gene.Although70-80%ofpatientswithCShaveanidentifiablegermlinePTENmutation,theclinicaldiagnosispresentsmanychallengesbecauseofthephenotypicandgenotypicvariations.Inthepresentstudy,wesequencedtheexonsandthepromoterofPTENgene,mutationsandvariationsinthepromoterandexonswereidentified,andaPTENproteinexpressionnegativeregionwasdeterminedbyimmunohistochemistry(IHC).Inconclusion,anovelpromotermutationwefoundinPTENgenemayturnoffPTENproteinexpressionoccasionally,leadingtothedisorderofPTENanduntypicalCSmanifestations.

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A novel PTEN gene promoter mutation and untypical Cowden syndrome

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A novel PTEN gene promoter mutation and untypical Cowden syndrome

来源期刊

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