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.

Links

Publisher Full Text

Authors

Peck BW, Rich TA, Jimenez C, Kupferman ME

Institution

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

Source

The Laryngoscope 121:12 2011 Dec pg 2572-5

MeSH

Adult
Biopsy, Needle
Carotid Body Tumor
Female
Follow-Up Studies
Genetic Predisposition to Disease
Germ-Line Mutation
Head and Neck Neoplasms
Humans
Immunohistochemistry
Neoplasm Staging
Risk Assessment
Succinate Dehydrogenase
Tomography, X-Ray Computed
Treatment Outcome

Pub Type(s)

Case Reports
Journal Article
Research Support, N.I.H., Extramural
Research Support, Non-U.S. Gov't

Language

eng

PubMed ID

22109755