title: A novel SDHB mutation associated with hereditary head and neck paraganglioma.
abstract: OBJECTIVE
  To describe a novel germline mutation in the succinate dehydrogenase subunit B (SDHB) gene.
  
  
  METHODS
  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.
authors: Department of Medicine, Baylor College of Medicine, Houston, Texas, USA.
authors: Brandon W
authors: BW
authors: Peck
authors: Thereasa A
authors: TA
authors: Rich
authors: Camilo
authors: C
authors: Jimenez
authors: Michael E
authors: ME
authors: Kupferman
mesh_terms: D000328:Adult; D001707:Biopsy, Needle; D002345:Carotid Body Tumor / Q000235:genetics* / Q000473:pathology / Q000601:surgery*; D005260:Female; D005500:Follow-Up Studies; D020022:Genetic Predisposition to Disease; D018095:Germ-Line Mutation; D006258:Head and Neck Neoplasms / Q000235:genetics* / Q000473:pathology / Q000601:surgery*; D006801:Humans; D007150:Immunohistochemistry; D009367:Neoplasm Staging; D018570:Risk Assessment; D013385:Succinate Dehydrogenase / Q000235:genetics*; D014057:Tomography, X-Ray Computed / Q000379:methods; D016896:Treatment Outcome
chemical_list: D013385:Succinate Dehydrogenase