Novel mutation (L157X) in the succinate dehydrogenase B gene (SDHB) in a Japanese family with abdominal paraganglioma following lung metastasis.
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.
Saito
Tomohito
T
Division of Thoracic Surgery, Department of Thoracic and Cardiovascular Surgery, Kansai Medical University, Osaka, Japan.
Saito
Yukihito
Y
Matsumura
Koichiro
K
Tsubota
Yu
Y
Maniwa
Tomohiro
T
Kaneda
Hiroyuki
H
Minami
Ken-ichiro
K
Sakaida
Noriko
N
Uemura
Yoshiko
Y
Kawa
Gen
G
Yamamoto
Nae
N
Fujii
Yoshimitsu
Y
Isobe
Kazumasa
K
Kawakami
Yasushi
Y
Matsuda
Tadashi
T
Takekoshi
Kazuhiro
K
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*
C108095:SDHB protein, human; D013385:Succinate Dehydrogenase