The Risk of Head and Neck Paragangliomas and Pheochromocytomas in SDHD Mutation Carriers

Abstract

Background: In The Netherlands, most hereditary head and neck paraganglioma syndromes are caused by 2 founder mutations in the SDHD gene. In SDHD-linked paragangliomas, the risk of developing a tumor depends on the sex of the parent that transmits the mutation: as a rule, paragangliomas do not develop when the mutation is inherited via the mother. In this study, we assess the risk of developing paragangliomas and associated pheochromocytomas, as well as paraganglioma-related symptoms, upon paternal transmission of an SDHD mutation.