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A novel SDHB mutation associated with hereditary head and neck paraganglioma
Brandon W Peck1, Thereasa A Rich, Camilo Jimenez
1Department of Medicine, Baylor College of Medicine, Houston, Texas, USA.
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.
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