LETTER TO JMG

An Alu-mediated partial SDHC deletion causes familial and sporadic paraganglioma

B E Baysal^1,2, J E Willett-Brozick¹, P A A Filho³, E C Lawrence², E N Myers³, R E Ferrell²

¹ Department of Obstetrics, The University of Pittsburgh School of Medicine, Pittsburgh, PA, USA
² Department of Human Genetics, Graduate School of Public Health, University of Pittsburgh, Pittsburgh, PA, USA
³ Department of Otolaryngology, The University of Pittsburgh School of Medicine, Pittsburgh, PA, USA

Correspondence to:
Correspondence to:
Dr Bora E Baysal
Magee-Womens Research Institute, 204 Craft Ave. R332B, Pittsburgh, PA, 15213, USA; baysalb@mwri.magee.edu

Received 25 March 2004

Accepted 30 March 2004

Abbreviations: PGL1, PGL3, and PGL4, hereditary paraganglioma types 1, 3, and 4; PLNA, percentage loss of normal alleles; RA, ratio of alleles; SDH, succinate dehydrogenase

The first 150 words of the full text of this article appear below.

Hereditary paraganglioma (PGL) is characterised by slow growing, vascular tumours that can develop in any component of the paraganglia, a neuro-ectodermal system that is distributed from the skull base to the pelvic floor.¹ Common tumour sites include the carotid body in the head and neck and adrenal and extra-adrenal paraganglia in the abdomen. Heterozygous germline inactivating mutations in SDHD, SDHC, and SDHB, which encode three of the four subunits of mitochondrial complex II (succinate dehydrogenase), cause hereditary paraganglioma types 1, 3, and 4 (PGL1, PGL3, and PGL4), respectively. Mutations in the fourth subunit of mitochondrial complex II, SDHA, have yet to be demonstrated in hereditary paraganglioma. Germline loss of function mutations followed by somatic loss of non-mutant alleles in the tumours^2–4 suggests a tumour suppressor role for mitochondrial complex II in the paraganglia.

Over 25 mutations in SDHD and 25 mutations in SDHB have been detected . . . [Full text of this article]

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