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This Article Full Text Full Text (PDF) All Versions of this Article: jmg.2007.051045v1 44/9/586    most recent Submit a response Alert me when this article is cited Alert me when eLetters are posted Alert me if a correction is posted Citation Map Services Email this link to a friend Similar articles in this journal Similar articles in PubMed Add article to my folders Download to citation manager Request Permissions Citing Articles Citing Articles via HighWire Citing Articles via Google Scholar Google Scholar Articles by Mannelli, M Articles by Parenti, G Search for Related Content PubMed PubMed Citation Articles by Mannelli, M Articles by Parenti, G Pubmed/NCBI databases Medline Plus Health Information Genetic Testing Pheochromocytoma

Genetic screening for pheochromocytoma: should SDHC gene analysis be included?

¹ Endocrinology, Department of Clinical Physiopathology, University of Florence, Florence, Italy
² Clinical Biochemistry Unit, Department of Clinical Physiopathology, University of Florence, Florence, Italy
³ U.O. Nephrology, Azienda Ospedaliera Careggi, Florence, Italy

Correspondence to:
Massimo Mannelli
MD, Full Professor of Endocrinology, Department of Clinical Physiopathology, University of Florence, Viale Pieraccini 6, 50139, Florence, Italy; m.mannelli{at}dfc.unifi.it] PGL3 syndrome is caused by mutations in the SDHC gene. At present, only a few families affected by SDHC mutations have been reported in the literature and in each of them the clinical presentation was characterised by paragangliomas located only in the head and neck regions. No evidence of thoracic or abdominal catecholamine-secreting chromaffin tumours has been reported to date. We report the case of a 15-year-old girl with hypertension and a norepinephrine-secreting abdominal paraganglioma who was found to harbour a novel nonsense SDHC mutation, demonstrating that the clinical presentation of PGL3 syndrome can be more diverse than expected.

Abbreviations: SDH, succinate dehydrogenase

Keywords: PGL3; W42X; paraganglioma; neural crest derived tumors; genetic testing

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				J. T. Adler, G. Y. Meyer-Rochow, H. Chen, D. E. Benn, B. G. Robinson, R. S. Sippel, and S. B. Sidhu Pheochromocytoma: Current Approaches and Future Directions Oncologist, July 1, 2008; 13(7): 779 - 793. [Abstract] [Full Text] [PDF]