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.