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.