title: A mutation of the succinate dehydrogenase B gene in a Korean family with paraganglioma.
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).
authors.affiliation: Department of Biology, College of Natural Sciences, Kyungpook National University, Daegu, Republic of Korea.
authors.forename: Borum
authors.initials: B
authors.lastname: Sagong
authors.affiliation: Department of Otorhinolaryngology, Yonsei University College of Medicine, Seoul, Republic of Korea.
authors.forename: Young Joon
authors.initials: YJ
authors.lastname: Seo
authors.affiliation: Department of Otorhinolaryngology, Yonsei University College of Medicine, Seoul, Republic of Korea.
authors.forename: Hyun-Jin
authors.initials: HJ
authors.lastname: Lee
authors.affiliation: Department of Otorhinolaryngology, Yonsei University College of Medicine, Seoul, Republic of Korea.
authors.forename: Mi Joo
authors.initials: MJ
authors.lastname: Kim
authors.affiliation: Department of Biology, College of Natural Sciences, Kyungpook National University, Daegu, Republic of Korea. kimuk@knu.ac.kr.|School of Life Sciences, BK21 Plus KNU Creative BioResearch Group, Kyungpook National University, Daegu, Republic of Korea. kimuk@knu.ac.kr.
authors.forename: Un-Kyung
authors.initials: UK
authors.lastname: Kim
authors.affiliation: Department of Otorhinolaryngology, Yonsei University College of Medicine, Seoul, Republic of Korea. ismoonmd@yuhs.ac.
authors.forename: In Seok
authors.initials: IS
authors.lastname: Moon
mesh_terms: D044466:Asian People / Q000235:genetics; D004428:Ear Neoplasms / Q000235:genetics / Q000601:surgery; D005260:Female; D018095:Germ-Line Mutation; D006579:Heterozygote; D006801:Humans; D010235:Paraganglioma / Q000235:genetics* / Q000601:surgery; D013385:Succinate Dehydrogenase / Q000235:genetics*; D014012:Tinnitus / Q000235:genetics / Q000473:pathology; D014432:Tympanic Membrane / Q000473:pathology; D055815:Young Adult
chemical_list: C108095:SDHB protein, human; D013385:Succinate Dehydrogenase
keywords: Germ-line mutation; Paraganglioma; Succinate dehydrogenase
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