C. L, H. c, F. Q, L. P, Gao Yh, Li Wl, Chen Jy, Zhang Hw, Q. T.
{"title":"A New Mutation Site of Succinate Dehydrogenase-Related Carney-Stratakis Syndrome: A Case Report","authors":"C. L, H. c, F. Q, L. P, Gao Yh, Li Wl, Chen Jy, Zhang Hw, Q. T.","doi":"10.26420/jdismarkers.2022.1049","DOIUrl":null,"url":null,"abstract":"Carney-Stratakis Syndrome (CSS), first described in 2002 [1], encompasses Gastrointestinal Stromal Tumors (GISTs) and Paragangliomas (PGLs) and has autosomal dominant inheritance with incomplete penetrance [2]. Germline mutations of Succinate Dehydrogenase (SDH) complex subunits and consequent SDH functional deficiency have been identified as responsible for CSS [3]. Here, we present a case with a new mutation site in SDHB that has not yet been reported.","PeriodicalId":344125,"journal":{"name":"Journal of Disease Markers","volume":"178 1","pages":"0"},"PeriodicalIF":0.0000,"publicationDate":"2023-01-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":null,"platform":"Semanticscholar","paperid":null,"PeriodicalName":"Journal of Disease Markers","FirstCategoryId":"1085","ListUrlMain":"https://doi.org/10.26420/jdismarkers.2022.1049","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"","JCRName":"","Score":null,"Total":0}
引用次数: 0
Abstract
Carney-Stratakis Syndrome (CSS), first described in 2002 [1], encompasses Gastrointestinal Stromal Tumors (GISTs) and Paragangliomas (PGLs) and has autosomal dominant inheritance with incomplete penetrance [2]. Germline mutations of Succinate Dehydrogenase (SDH) complex subunits and consequent SDH functional deficiency have been identified as responsible for CSS [3]. Here, we present a case with a new mutation site in SDHB that has not yet been reported.
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