title: Carotid body paraganglioma and SDHD mutation in a Greek family.
abstract: BACKGROUND
  Carotid body (CB) is a highly specialized paraganglion originating from the neural crest ectoderm. CB paraganglion can be caused either by a genetic predisposition (hereditary paraganglia) or by chronic hypoxic stimulation. Germline mutations in any of the following genes: SDHD, SDHC, SDHB, PGL2 or other unknown genes, can cause paragangliomas (PGLs).
  
  
  METHODS
  We studied a Greek family in which the two daughters had carotid body paraganglioma, whereas both parents did not. RNA extraction, reverse transcriptase polymerase chain reaction and direct DNA sequencing were performed, in order to identify SDHD mutations in all four exons.
  
  
  RESULTS
  Our results revealed the existence of the missense mutation Y114C, in exon-4 of the SDHD gene, in the unaffected father and both affected sisters.
  
  
  CONCLUSIONS
  DNA testing was performed, for the first time in Greece, on patients with carotid body tumor. This marks a new geographical location, in the literature, for this mutation.
authors.affiliation: 2nd Department of Propedeutic Surgery, Athens University Medical School, Laiko Hospital, Athens, Greece. liapis@hol.gr
authors.forename: C D
authors.initials: CD
authors.lastname: Liapis
authors.forename: J K
authors.initials: JK
authors.lastname: Bellos
authors.forename: A
authors.initials: A
authors.lastname: Halapas
authors.forename: P
authors.initials: P
authors.lastname: Lembessis
authors.forename: M
authors.initials: M
authors.lastname: Koutsilieris
authors.forename: A
authors.initials: A
authors.lastname: Kostakis
mesh_terms: D000328:Adult; D002345:Carotid Body Tumor / Q000201:enzymology / Q000235:genetics*; D005091:Exons; D005260:Female; D006801:Humans; D008297:Male; D008565:Membrane Proteins / Q000235:genetics*; D020125:Mutation, Missense; D013385:Succinate Dehydrogenase
chemical_list: D008565:Membrane Proteins; C491545:SDHD protein, human; D013385:Succinate Dehydrogenase