A Novel SDHB Mutation Associated with Hereditary Head and Neck Paraganglioma

作者：Peck Brandon W; Rich Thereasa A; Jimenez Camilo; Kupferman Michael E^*

来源：Laryngoscope, 2011, 121(12): 2572-2575.

DOI：10.1002/lary.22352

• Succinate dehydrogenase
• paraganglioma
• SDHB
• PGL4

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.

• 出版日期2011-12