title: An unusual succinate dehydrogenase gene mutation C in a case of laryngeal paraganglioma.
abstract: OBJECTIVE
  To report a rare case of a laryngeal paraganglioma related to succinate dehydrogenase gene mutation C.
  
  
  METHODS
  A case report and a review of the world literature concerning succinate dehydrogenase mutations and laryngeal paraganglioma are presented.
  
  
  RESULTS
  We identified a laryngeal paraganglioma in a 38-year-old woman, related to a very rare, deleterious in exon 4 of the succinate dehydrogenase mutation C. This mutation was a non-sense mutation: c.183G >A leading to p.Trp61X. No other neuroendocrine tumour was identified in this case, but a thyroid papillary carcinoma was concomitantly discovered and cured.
  
  
  CONCLUSIONS
  To our knowledge, this is the first report in the world literature of laryngeal paraganglioma related to a succinate dehydrogenase mutation C. The case presented underlines the fact that every patient with paraganglioma should be tested for succinate dehydrogenase genetic mutations, even if a family history of paraganglioma is absent, in order to enable appropriate clinical management and to improve our knowledge of familial paraganglioma.
authors.affiliation: Department of Otolaryngology, Montpellier Teaching Hospitals, Montpellier Cedex 4, France. r-garrel@chu-montpellier.fr
authors.forename: R
authors.initials: R
authors.lastname: Garrel
authors.forename: P
authors.initials: P
authors.lastname: Raynaud
authors.forename: I
authors.initials: I
authors.lastname: Raingeard
authors.forename: C
authors.initials: C
authors.lastname: Muyshondt
authors.forename: Q
authors.initials: Q
authors.lastname: Gardiner
authors.forename: B
authors.initials: B
authors.lastname: Guerrier
authors.forename: P
authors.initials: P
authors.lastname: Pujol
authors.forename: I
authors.initials: I
authors.lastname: Coupier
mesh_terms: D000328:Adult; D005260:Female; D020022:Genetic Predisposition to Disease / Q000235:genetics; D018095:Germ-Line Mutation / Q000235:genetics*; D006801:Humans; D007822:Laryngeal Neoplasms / Q000201:enzymology / Q000235:genetics*; D008565:Membrane Proteins / Q000235:genetics; D010235:Paraganglioma / Q000201:enzymology / Q000235:genetics*; D035583:Rare Diseases / Q000235:genetics; D013385:Succinate Dehydrogenase / Q000235:genetics*
chemical_list: D008565:Membrane Proteins; C108096:SDHC protein, human; D013385:Succinate Dehydrogenase