A Novel SDHB Mutation Associated with Hereditary Head and Neck Paraganglioma

Objectives/Hypothesis: To describe a novel germline mutation in the succinate dehydrogenase subunit B (SDHB) gene. Study Design: Retrospective review. Methods: The medical records of a patient with bilateral carotid body paragangliomas were reviewed. Results: A 35-year-old woman with a family history of neck masses presented with bilateral carotid body paragangliomas. DNA sequencing revealed a previously unreported conservative substitution (Leu111Val) mutation in the SDHB gene. Conclusions: The Leu111Val germline mutation of SDHB is likely associated with a phenotype of head and neck paragangliomas, and carriers would benefit from periodic screening for sympathetic paragangliomas.