A novel SDHB mutation associated with hereditary head and neck paraganglioma.
To describe a novel germline mutation in the succinate dehydrogenase subunit B (SDHB) gene.
The medical records of a patient with bilateral carotid body paragangliomas were reviewed.
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.
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.
Department of Medicine, Baylor College of Medicine, Houston, Texas, USA.
SourceThe Laryngoscope 121:12 2011 Dec pg 2572-5
Carotid Body Tumor
Genetic Predisposition to Disease
Head and Neck Neoplasms
Tomography, X-Ray Computed
Pub Type(s)Case Reports
Research Support, N.I.H., Extramural
Research Support, Non-U.S. Gov't