| Primary hyperparathyroidism and jaw tumor syndrome: a novel mutation of the HRPT2 gene. | |
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MedLine Citation:
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PMID: 18996796 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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OBJECTIVE: To discuss a case of hyperparathyroidism-jaw tumor syndrome (HPT-JT) and its clinical course, as well as describe a new mutation within HRPT2, the gene associated with HPT-JT. METHODS: We describe the clinical course, laboratory data, and diagnostic imaging of a patient with HPT-JT, including the mutation analysis of the HRPT2 gene. A review of the related literature is also presented. RESULTS: A 22-year-old man presented with progressive bone pain and weakness, and investigation revealed a serum calcium level of 17.6 mg/dL, a phosphorus concentration of 1.8 mg/dL, and an intact parathyroid hormone value of 2,808 pg/mL. X-ray examinations showed a fracture of the left hip and compression fractures of the lumbar spine. Computed tomography disclosed a mass in his mandible, clinically suggesting HPT-JT. Genetic analysis of the HRPT2 gene demonstrated a frameshift mutation resulting in a premature stop codon. The patient underwent parathyroidectomy, and 1 year later his fractures had healed and dual-energy x-ray absorptiometry showed substantial improvement in bone mineral density. CONCLUSION: Previous reports have cited mutations of the gene HRPT2 leading to HPT-JT and its associated phenotypes. We report one such mutation, not reported previously, in a patient with HPT-JT. This case adds to the growing evidence that different mutations in the HRPT2 gene can lead to HPT-JT, although it remains unclear whether specific mutations are more strongly associated with a particular phenotype. |
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Authors:
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Anders L Carlson; Charles L Smith |
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Publication Detail:
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Type: Case Reports; Journal Article |
Journal Detail:
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Title: Endocrine practice : official journal of the American College of Endocrinology and the American Association of Clinical Endocrinologists Volume: 14 ISSN: 1934-2403 ISO Abbreviation: Endocr Pract Publication Date: 2008 Sep |
Date Detail:
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Created Date: 2008-11-10 Completed Date: 2009-04-20 Revised Date: - |
Medline Journal Info:
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Nlm Unique ID: 9607439 Medline TA: Endocr Pract Country: United States |
Other Details:
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Languages: eng Pagination: 743-7 Citation Subset: IM |
Affiliation:
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Division of Nephrology, Department of Medicine, Hennepin County Medical Center, Minneapolis, MN 55415, USA. |
Export Citation:
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APA/MLA Format Download EndNote Download BibTex |
| MeSH Terms | |
Descriptor/Qualifier:
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Humans Hyperparathyroidism, Primary / genetics*, pathology, radiography Jaw Neoplasms / genetics*, pathology, radiography Male Mutation Tumor Suppressor Proteins / genetics* Young Adult |
| Chemical | |
Reg. No./Substance:
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0/CDC73 protein, human; 0/Tumor Suppressor Proteins |
| Comments/Corrections | |
Comment In:
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Endocr Pract. 2009 May-Jun;15(3):276-7; author reply 277
[PMID:
19368060
]
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From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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