Document Detail

Primary hyperparathyroidism and jaw tumor syndrome: a novel mutation of the HRPT2 gene.
MedLine Citation:
PMID:  18996796     Owner:  NLM     Status:  MEDLINE    
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.
Anders L Carlson; Charles L Smith
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Publication Detail:
Type:  Case Reports; Journal Article    
Journal Detail:
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:
Created Date:  2008-11-10     Completed Date:  2009-04-20     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  9607439     Medline TA:  Endocr Pract     Country:  United States    
Other Details:
Languages:  eng     Pagination:  743-7     Citation Subset:  IM    
Division of Nephrology, Department of Medicine, Hennepin County Medical Center, Minneapolis, MN 55415, USA.
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MeSH Terms
Hyperparathyroidism, Primary / genetics*,  pathology,  radiography
Jaw Neoplasms / genetics*,  pathology,  radiography
Tumor Suppressor Proteins / genetics*
Young Adult
Reg. No./Substance:
0/CDC73 protein, human; 0/Tumor Suppressor Proteins
Comment In:
Endocr Pract. 2009 May-Jun;15(3):276-7; author reply 277   [PMID:  19368060 ]

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