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Laryngoscope. 2011 Dec;121(12):2572-5. doi: 10.1002/lary.22352.

A novel SDHB mutation associated with hereditary head and neck paraganglioma.

Author information

  • 1Department of Medicine, Baylor College of Medicine, Houston, Texas, USA.

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.

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

PMID:
22109755
[PubMed - indexed for MEDLINE]
PMCID:
PMC3420815
Free PMC Article

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