Carotid body paraganglioma and SDHD mutation in a Greek family.
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.
Liapis
C D
CD
2nd Department of Propedeutic Surgery, Athens University Medical School, Laiko Hospital, Athens, Greece. liapis@hol.gr
Bellos
J K
JK
Halapas
A
A
Lembessis
P
P
Koutsilieris
M
M
Kostakis
A
A
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
D008565:Membrane Proteins; C491545:SDHD protein, human; D013385:Succinate Dehydrogenase