Diagnosis and management of hereditary paraganglioma syndrome due to the F933>X67 SDHD mutation
dc.contributor.author | Marvin, Monica L. | en_US |
dc.contributor.author | Bradford, Carol R. | en_US |
dc.contributor.author | Sisson, James C. | en_US |
dc.contributor.author | Gruber, Stephen B. | en_US |
dc.date.accessioned | 2009-05-04T18:26:28Z | |
dc.date.available | 2010-07-06T14:30:31Z | en_US |
dc.date.issued | 2009-05 | en_US |
dc.identifier.citation | Marvin, Monica L.; Bradford, Carol R.; Sisson, James C.; Gruber, Stephen B. (2009). "Diagnosis and management of hereditary paraganglioma syndrome due to the F933>X67 SDHD mutation." Head & Neck 31(5): 689-694. <http://hdl.handle.net/2027.42/62144> | en_US |
dc.identifier.issn | 1043-3074 | en_US |
dc.identifier.issn | 1097-0347 | en_US |
dc.identifier.uri | https://hdl.handle.net/2027.42/62144 | |
dc.identifier.uri | http://www.ncbi.nlm.nih.gov/sites/entrez?cmd=retrieve&db=pubmed&list_uids=19072999&dopt=citation | en_US |
dc.description.abstract | Background The hereditary paraganglioma syndromes (PGLs) are autosomal dominant conditions with an increased risk for tumors of the sympathetic and parasympathetic neuroendocrine systems. The recognition of patients with hereditary PGL and identification of the responsible gene are important for the management of index patients and family members. Methods We present the clinical, radiological, biochemical, and family history findings of a 15-year-old boy patient with a glomus vagale versus glomus jugulare tumor. Results Evaluation of the family history and the patient's history led to the identification of a familial succinate dehydrogenase subunit D (SDHD) gene mutation (F933>X67), consistent with a diagnosis of hereditary PGL1. Although this family had all head and neck tumors, this SDHD mutation has previously been described in a family with primarily functional pheochromocytomas. Conclusions This case report highlights the variable expressivity of a single mutation in SDHD, (F933>X67). Careful and comprehensive screening is warranted for individuals at risk. © 2008 Wiley Periodicals, Inc. Head Neck, 2009 | en_US |
dc.format.extent | 141054 bytes | |
dc.format.extent | 3118 bytes | |
dc.format.mimetype | application/pdf | |
dc.format.mimetype | text/plain | |
dc.publisher | Wiley Subscription Services, Inc., A Wiley Company | en_US |
dc.subject.other | Life and Medical Sciences | en_US |
dc.subject.other | Cancer Research, Oncology and Pathology | en_US |
dc.title | Diagnosis and management of hereditary paraganglioma syndrome due to the F933>X67 SDHD mutation | en_US |
dc.type | Article | en_US |
dc.rights.robots | IndexNoFollow | en_US |
dc.subject.hlbsecondlevel | Otolaryngology | en_US |
dc.subject.hlbtoplevel | Health Sciences | en_US |
dc.description.peerreviewed | Peer Reviewed | en_US |
dc.contributor.affiliationum | Department of Human Genetics, University of Michigan Medical School, Ann Arbor, Michigan | en_US |
dc.contributor.affiliationum | Department of Otolaryngology, University of Michigan Medical School, Ann Arbor, Michigan | en_US |
dc.contributor.affiliationum | Department of Internal Medicine, University of Michigan Medical School, Ann Arbor, Michigan | en_US |
dc.contributor.affiliationum | Department of Human Genetics, University of Michigan Medical School, Ann Arbor, Michigan ; Department of Internal Medicine, University of Michigan Medical School, Ann Arbor, Michigan ; Department of Epidemiology, School of Public Health, University of Michigan Medical School, Ann Arbor, Michigan ; Department of Human Genetics, University of Michigan Medical School, Ann Arbor, Michigan | en_US |
dc.identifier.pmid | 19072999 | en_US |
dc.description.bitstreamurl | http://deepblue.lib.umich.edu/bitstream/2027.42/62144/1/20930_ftp.pdf | |
dc.identifier.doi | 10.1002/hed.20930 | en_US |
dc.identifier.source | Head & Neck | en_US |
dc.owningcollname | Interdisciplinary and Peer-Reviewed |
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