Abstract
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.
Original language | English (US) |
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Pages (from-to) | 2572-2575 |
Number of pages | 4 |
Journal | Laryngoscope |
Volume | 121 |
Issue number | 12 |
DOIs | |
State | Published - Dec 2011 |
Keywords
- PGL4
- SDHB
- Succinate dehydrogenase
- paraganglioma
ASJC Scopus subject areas
- Otorhinolaryngology