. Author manuscript; available in PMC: 2014 May 1.

Published in final edited form as: Biochim Biophys Acta. 2013 Jan 2;1827(5):10.1016/j.bbabio.2012.12.007. doi: 10.1016/j.bbabio.2012.12.007

Table 1.

Complex II mutant phenotypes associated with cancer and other diseases.

Subunit	Gene Locus	Phenotype	Malignancy	MIM #	Reference
SDHA	5p15.33 [55]	Cardiomyopathy	?	613642	[209]
		Leigh Syndrome		256000	[55,210–212]
		Mitochondrial Cx II deficiency		252011	[55,210–212]
		Paraganglioma type 5		614165	[213]
SDHB	1p36.13 [214]	Cowden-like syndrome	High	612359	[215]
		GIST		606764	[216]
		Paragangliomas and GIST		606864	[217,218]
		Paraganglioma type 4		115301	[10,219–223]
		Pheochromocytoma		171300	[10,22,224]
SDHC	1q23.3 [217]	GIST	Low	606764	[216]
		Paragangliomas and GIST		606864	[217]
		Paraganglioma type 3		605373	[8,225]
SDHD	11q23.1 [226]	Carciniod Tumors Intestinal	Low	114900	[227]
		Cowden-like syndrome		612359	[215]
		Merkel Cell Carcinoma (Somatic)		-	[227]
		Paragangliomas and GIST		606864	[217]
		Paraganglioma type 1		168000	[9,221,224,228–232]
		Pheochromocytoma		171300	[229,233]
SDHAF1	19q13.12 [234]	Mitochondrial Cx II deficiency		252011	[234]
SDHAF2	11q12.2 [12]	Paraganglioma type 2	?	601650	[12,235]

Legend. GIST, Gastrointestinal stromal turmors (GIST); Cx II, complex II.