A novel SDHB mutation associated with hereditary head and neck paraganglioma.
case_report · Level V
Where this comes from
- Record sourced from PubMed, PMID 22109755.
- Also identified by DOI 10.1002/lary.22352 and PMC identifier 3420815.
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Abstract
To describe a novel germline mutation in the succinate dehydrogenase subunit B (SDHB) gene. Retrospective review. 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.
Medical subject headings
- Carotid Body Tumor
- Genetic Predisposition to Disease
- Head and Neck Neoplasms
- Succinate Dehydrogenase