The Laryngoscope · 2011
A novel SDHB mutation associated with hereditary head and neck paraganglioma.
Клинический случайСтатьяПоддержка NIH: внешняя программаПоддержка исследования: вне правительства СШАНазвание и аннотация: Перевод пока не подготовлен
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Peck Brandon W, Rich Thereasa A, Jimenez Camilo, Kupferman Michael E
Аннотация
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.
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.