琥珀酸脱氢酶相关卡尼- stratakis综合征一个新的突变位点:1例报告

Journal of Disease Markers Pub Date : 2023-01-02 DOI:10.26420/jdismarkers.2022.1049

C. L, H. c, F. Q, L. P, Gao Yh, Li Wl, Chen Jy, Zhang Hw, Q. T.

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引用次数: 0

摘要

卡尼- stratakis综合征(CSS)于2002年首次被描述[1]，包括胃肠道间质瘤(gist)和副神经节瘤(PGLs)，具有不完全外显率的常染色体显性遗传[2]。琥珀酸脱氢酶(SDH)复合物亚基的种系突变和随之而来的SDH功能缺陷已被确定为CSS的原因[3]。在这里，我们提出了一个尚未报道的SDHB新突变位点的病例。

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A New Mutation Site of Succinate Dehydrogenase-Related Carney-Stratakis Syndrome: A Case Report

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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Journal of Disease Markers

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