In affected members of a family with PGL3, Niemann and Muller (2000) identified a heterozygous mutation in the SDHC gene (602413.0001).
Baysal et al. (2004) described a family with PGL3 in which an 8,372-bp deletion in ... In affected members of a family with PGL3, Niemann and Muller (2000) identified a heterozygous mutation in the SDHC gene (602413.0001). Baysal et al. (2004) described a family with PGL3 in which an 8,372-bp deletion in the SDHC gene (602413.0003) was transmitted both maternally and paternally, without evidence of genomic imprinting. They also identified the deletion in an unrelated sporadic case. They concluded that hereditary paraganglioma with imprinted transmission is restricted to SDHD (602690) among complex II genes. Schiavi et al. (2005) identified mutations in the SDHC gene in 5 (4%) of 121 index patients with head and neck paragangliomas from a European registry. Clinically, 4 patients had jugular paragangliomas, and 1 had a carotid body tumor. All were benign, and none were multifocal. None of the mutation carriers or their carrier family members had signs of pheochromocytoma. Of 371 patients with sporadic pheochromocytomas, there were none with SDHC mutations, 21 with SDHB (185470) mutations, and 21 with SDHD (602690) mutations. Schiavi et al. (2005) concluded that SDHC-associated tumors are not likely to be pheochromocytomas and are less likely to be malignant or multifocal compared to SDHB- or SDHD-associated tumors.
Hensen et al. (2012) determined the mutation frequency of 4 succinate dehydrogenase genes in a total of 1,045 patients from 340 Dutch families with paraganglioma and pheochromocytoma. Mutations were identified in 690 cases from 239 families. The most ... Hensen et al. (2012) determined the mutation frequency of 4 succinate dehydrogenase genes in a total of 1,045 patients from 340 Dutch families with paraganglioma and pheochromocytoma. Mutations were identified in 690 cases from 239 families. The most commonly affected gene in mutation carriers was SDHD (87.1%), followed by SDHAF2 (613019) (6.7%), SDHB (5.9%), and SDHC (0.3%). Almost 70% of all carriers had the founder mutation D92Y (602690.0004) in SDHD; approximately 89% of all SDH mutation carriers had 1 of 6 Dutch founder mutations. The dominance of SDHD mutations was unique to the Netherlands, contrasting with the higher prevalence of SDHB mutations found elsewhere.