One the four genes (SDHA, SDHB, SDHC, SDHD) that encode mitochondrial succinate dehydrogenase.
Pathology
paragangliomas (16258955)
susceptibility to head and neck paraganglioma
familial and isolated phaeochromocytoma
early onset renal cell carcinoma (RCC)
Cowden disease (16258955)
Cowden-like syndromes (16258955)
Germ-line mutations of the SDH genes have been found to account for nearly 10% of apparently sporadic paragangliomas.
References
Ni Y, Zbuk KM, Sadler T, Patocs A, Lobo G, Edelman E, Platzer P, Orloff MS, Waite KA, Eng C. Germline mutations and variants in the succinate dehydrogenase genes in Cowden and Cowden-like syndromes. Am J Hum Genet. 2008 Aug;83(2):261-8. PMID: 18678321
Cascon A, Montero-Conde C, Ruiz-Llorente S, Mercadillo F, Leton R, Rodriguez-Antona C, Martinez-Delgado B, Delgado M, Diez A, Rovira A, Diaz JA, Robledo M. Gross SDHB deletions in patients with paraganglioma detected by multiplex PCR: a possible hot spot? Genes Chromosomes Cancer. 2006 Mar;45(3):213-9. PMID: 16258955