A Chinese family with familial paraganglioma syndrome due to succinate dehydrogenase deficiency

Abstract

We report the genetic characteristics of a family with familial paraganglioma syndrome. The index patient was diagnosed with carcinoid tumour of the bronchus at the age of 30 years then later diagnosed with bilateral phaeochromocytoma. His sister had bilateral carotid body tumours. Mutational analyses of succinate dehydrogenase B and SDHD on the index patient showed him to be heterozygous for the M1I mutation of the SDHD gene. A genetic analysis revealed that his sister also had succinate dehydrogenase deficiency with the same mutation. Pre-symptomatic testing confirmed the genetic diagnosis, and led to a clinical diagnosis in an otherwise asymptomatic sibling. Comparison with other known cases of M1I mutation suggests that this is a founder mutation in the Chinese population. Genetic analysis of the succinate dehydrogenase genes can provide a specific diagnosis and allow for genetic screening of at-risk individuals.