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A novel SDHB mutation associated with hereditary head and neck paraganglioma
Author(s) -
Peck Brandon W.,
Rich Thereasa A.,
Jimenez Camilo,
Kupferman Michael E.
Publication year - 2011
Publication title -
the laryngoscope
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.181
H-Index - 148
eISSN - 1531-4995
pISSN - 0023-852X
DOI - 10.1002/lary.22352
Subject(s) - sdhb , medicine , paraganglioma , germline mutation , sdhd , germline , mutation , family history , head and neck , gene , pathology , genetics , surgery , biology
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. Laryngoscope, 121:2572–2575, 2011