title: Novel mutation (L157X) in the succinate dehydrogenase B gene (SDHB) in a Japanese family with abdominal paraganglioma following lung metastasis.
abstract: Recently, nuclear genes encoding two mitochondrial complex II subunit proteins, SDHD and SDHB, have been found to be associated with the development of familial pheochromocytomas and paragangliomas (hereditary pheochromocytoma/paraganglioma syndrome: HPPS). Growing evidence suggests that the mutation of SDHB is highly associated with abdominal paraganglioma and the following distant metastasis (malignant paraganglioma). In the present study, we report the case of a novel SDHB mutation (L157X) in a Japanese patient with abdominal paraganglioma following malignant lung metastasis. In addition, we identified an asymptomatic carrier of the SDHB mutation in this family.
authors.affiliation: Division of Thoracic Surgery, Department of Thoracic and Cardiovascular Surgery, Kansai Medical University, Osaka, Japan.
authors.forename: Tomohito
authors.initials: T
authors.lastname: Saito
authors.forename: Yukihito
authors.initials: Y
authors.lastname: Saito
authors.forename: Koichiro
authors.initials: K
authors.lastname: Matsumura
authors.forename: Yu
authors.initials: Y
authors.lastname: Tsubota
authors.forename: Tomohiro
authors.initials: T
authors.lastname: Maniwa
authors.forename: Hiroyuki
authors.initials: H
authors.lastname: Kaneda
authors.forename: Ken-ichiro
authors.initials: K
authors.lastname: Minami
authors.forename: Noriko
authors.initials: N
authors.lastname: Sakaida
authors.forename: Yoshiko
authors.initials: Y
authors.lastname: Uemura
authors.forename: Gen
authors.initials: G
authors.lastname: Kawa
authors.forename: Nae
authors.initials: N
authors.lastname: Yamamoto
authors.forename: Yoshimitsu
authors.initials: Y
authors.lastname: Fujii
authors.forename: Kazumasa
authors.initials: K
authors.lastname: Isobe
authors.forename: Yasushi
authors.initials: Y
authors.lastname: Kawakami
authors.forename: Tadashi
authors.initials: T
authors.lastname: Matsuda
authors.forename: Kazuhiro
authors.initials: K
authors.lastname: Takekoshi
mesh_terms: D000328:Adult; D044466:Asian People / Q000235:genetics; D005260:Female; D018095:Germ-Line Mutation; D006801:Humans; D008175:Lung Neoplasms / Q000473:pathology / Q000556:secondary; D008297:Male; D008875:Middle Aged; D010235:Paraganglioma / Q000235:genetics*; D010375:Pedigree; D012186:Retroperitoneal Neoplasms / Q000235:genetics* / Q000473:pathology; D013385:Succinate Dehydrogenase / Q000235:genetics*
chemical_list: C108095:SDHB protein, human; D013385:Succinate Dehydrogenase