Document Detail

L157X nonsense mutation of the succinate dehydrogenase subunit B gene in a Japanese patient with right paraaortic paraganglioma.
MedLine Citation:
PMID:  20960097     Owner:  NLM     Status:  MEDLINE    
Nuclear genes succinate dehydrogenase B subunit and succinate dehydrogenase D subunit, which encode two mitochondrial complex II subunits, are associated with the development of familial paraganglioma (PGL). Succinate dehydrogenase B subunit gene mutation is highly associated with extraadrenal PGL and subsequent distant metastasis. We describe the case of a 29-year-old Japanese man with a 3-year history of hypertension, headache, and palpitation. Endocrinological examinations showed that the patient had elevated levels of catecholamines, and imaging studies revealed a right paraaortic PGL without distant metastases. The PGL was surgically removed. Genetic analysis of the patient showed a heterozygous thymine deletion at position 470 (c.470delT) in exon 5 of the succinate dehydrogenase B subunit gene complementary DNA. This thymine deletion changed TTG (leucine) to TGA (stop codon) at codon 157 (L157X). It remains unclear whether this mutation was associated with PGL malignancy because the patient has had no metastases for the past 3 years. It has been recently reported that L157X is associated with malignant paraaortic PGL. Thus, strict follow-up is required because this succinate dehydrogenase B subunit gene's nonsense mutation (L157X) may be related to the malignancy.
Haruhiro Sato; Genta Kanai; Kenichi Hirabayshi; Hiroshi Kajiwara; Johbu Itoh; Robert Yoshiyuki Osamura
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Publication Detail:
Type:  Journal Article     Date:  2010-07-08
Journal Detail:
Title:  Endocrine     Volume:  38     ISSN:  1559-0100     ISO Abbreviation:  Endocrine     Publication Date:  2010 Aug 
Date Detail:
Created Date:  2010-10-20     Completed Date:  2011-02-01     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  9434444     Medline TA:  Endocrine     Country:  United States    
Other Details:
Languages:  eng     Pagination:  18-23     Citation Subset:  IM    
Department of Medicine, Tokai University School of Medicine, Isehara, Kanagawa, Japan.
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MeSH Terms
Asian Continental Ancestry Group / genetics*
Codon, Nonsense*
Germ-Line Mutation
Paraganglioma / genetics*,  radionuclide imaging,  surgery
Peripheral Nervous System Neoplasms / genetics*,  radionuclide imaging,  surgery
Succinate Dehydrogenase / genetics*
Tomography, Emission-Computed, Single-Photon
Reg. No./Substance:
0/Codon, Nonsense; EC protein, human; EC Dehydrogenase

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