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A mutation of the succinate dehydrogenase B gene in a Korean family with paraganglioma.

作者信息

Sagong Borum, Seo Young Joon, Lee Hyun-Jin, Kim Mi Joo, Kim Un-Kyung, Moon In Seok

机构信息

Department of Biology, College of Natural Sciences, Kyungpook National University, Daegu, Republic of Korea.

Department of Otorhinolaryngology, Yonsei University College of Medicine, Seoul, Republic of Korea.

出版信息

Fam Cancer. 2016 Oct;15(4):601-6. doi: 10.1007/s10689-016-9874-8.

DOI:10.1007/s10689-016-9874-8
PMID:26833045
Abstract

Familial paraganglioma (PGL) is a dominantly inherited disorder characterized by development of PGLs in the head and neck region. Germline mutations in genes coding for succinate dehydrogenase (SDH) subunits D, B, and C (SDHD, SDHB, SDHC) are found in almost all familial PGL patients. A 19-year-old female presented with pulsatile tinnitus and a reddish pulsating mass in the external auditory canal, and her mother complained of similar symptoms. Paraganglioma was found in both patients and was surgically removed. We report a case of germline SDHB mutation. This mutation was a deletion of thymine at nucleotide position 757 in exon 7 of the SDHB gene (c.757delT).

摘要

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本文引用的文献

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Risk of malignant paraganglioma in SDHB-mutation and SDHD-mutation carriers: a systematic review and meta-analysis.SDHB 和 SDHD 基因突变携带者恶性副神经节瘤风险：系统评价和荟萃分析。
J Med Genet. 2012 Dec;49(12):768-76. doi: 10.1136/jmedgenet-2012-101192. Epub 2012 Oct 25.
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Measurements of plasma methoxytyramine, normetanephrine, and metanephrine as discriminators of different hereditary forms of pheochromocytoma.血浆甲氧基酪胺、去甲变肾上腺素和变肾上腺素的测量作为不同遗传形式嗜铬细胞瘤的鉴别指标。
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A novel mutation of the succinate dehydrogenase B gene in a Korean family with pheochromocytoma.
一个韩国家族中琥珀酸脱氢酶 B 基因的新型突变与嗜铬细胞瘤相关。
Fam Cancer. 2010 Dec;9(4):643-6. doi: 10.1007/s10689-010-9359-0.
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Clinical predictors for germline mutations in head and neck paraganglioma patients: cost reduction strategy in genetic diagnostic process as fall-out.头颈部副神经节瘤患者种系突变的临床预测因素：作为附带结果的基因诊断过程中的成本降低策略。
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JAMA. 2004 Aug 25;292(8):943-51. doi: 10.1001/jama.292.8.943.