The first Dutch SDHB founder deletion in paraganglioma-pheochromocytoma patients.

ABSTRACT:

Background

Germline mutations of the tumor suppressor genes SDHB, SDHC and SDHD play a major role in hereditary paraganglioma and pheochromocytoma. These three genes encode subunits of succinate dehydrogenase (SDH), the mitochondrial tricarboxylic acid cycle enzyme and complex II component of the electron transport chain. The majority of variants of the SDH genes are missense and nonsense mutations. To date few large deletions of the SDH genes have been described.

Methods

We carried out gene deletion scanning using MLPA in 126 patients negative for point mutations in the SDH genes. We then proceeded to the molecular characterization of deletions, mapping breakpoints in each patient and used haplotype analysis to determine whether the deletions are due to a mutation hotspot o

SUBMITTER: Bayley JP 

PROVIDER: S-EPMC2670821 | biostudies-literature | 2009 Apr

REPOSITORIES: biostudies-literature