A mutation of the succinate dehydrogenase B gene in a Korean family with paraganglioma
- Authors
- Sagong, Borum; Seo, Young Joon; Lee, Hyun-Jin; Kim, Mi Joo; Kim, Un-Kyung; Moon, In Seok
- Issue Date
- Oct-2016
- Publisher
- SPRINGER
- Keywords
- Germ-line mutation; Succinate dehydrogenase; Paraganglioma
- Citation
- FAMILIAL CANCER, v.15, no.4, pp 601 - 606
- Pages
- 6
- Journal Title
- FAMILIAL CANCER
- Volume
- 15
- Number
- 4
- Start Page
- 601
- End Page
- 606
- URI
- https://scholarworks.bwise.kr/cau/handle/2019.sw.cau/74055
- DOI
- 10.1007/s10689-016-9874-8
- ISSN
- 1389-9600
1573-7292
- 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).
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