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.
Copyright © 2011 The American Laryngological, Rhinological, and Otological Society, Inc.