Primary hyperparathyroidism and jaw tumor syndrome: A novel mutation of the HRPT2 gene

Endocrine Practice

Volumn 14, Issue 6, 2008, Pages 743-747

  Carlson, Anders L ^a   Smith, Charles L ^a  

^a HENNEPIN COUNTY MEDICAL CENTER   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

CALCIUM; PARATHYROID HORMONE; PHOSPHORUS; CDC73 PROTEIN, HUMAN; TUMOR SUPPRESSOR PROTEIN;

ADULT; ARTICLE; BONE DENSITY; BONE PAIN; CALCIUM BLOOD LEVEL; CASE REPORT; COMPRESSION FRACTURE; COMPUTER ASSISTED TOMOGRAPHY; DISEASE COURSE; DUAL ENERGY X RAY ABSORPTIOMETRY; FRAMESHIFT MUTATION; GENE; GENE MUTATION; GENETIC ANALYSIS; HIP FRACTURE; HRPT2 GENE; HUMAN; HYPERPARATHYROIDISM JAW TUMOR SYNDROME; JAW TUMOR; MALE; PARATHYROIDECTOMY; PHOSPHATE BLOOD LEVEL; PRIMARY HYPERPARATHYROIDISM; STOP CODON; WEAKNESS; GENETICS; MUTATION; PATHOLOGY; RADIOGRAPHY;

HUMANS; HYPERPARATHYROIDISM, PRIMARY; JAW NEOPLASMS; MALE; MUTATION; TUMOR SUPPRESSOR PROTEINS; YOUNG ADULT;

EID: 64749095673     PISSN: 1530891X     EISSN: None     Source Type: Journal    
DOI: 10.4158/EP.14.6.743     Document Type: Article

References (20)

1. Jackson CE. Hereditary hyperparathyroidism associated with recurrent pancreatitis. Ann Intern Med. 1958;49:829-836.
2. Mallette LE, Malini S, Rappaport MP, Kirkland JL. Familial cystic parathyroid adenomatosis. Ann Intern Med. 1987;107:54-60.
3. Jackson CE, Norum RA, Boyd SB, et al. Hereditary hyperparathyroidism and multiple ossifying jaw fibromas: a clinically and genetically distinct syndrome. Surgery. 1990;108:1006-1012.
4. Shattuck TM, Välimäki S, Obara T, et al. Somatic and germ-line mutations of the HRPT2 gene in sporadic parathyroid carcinoma. N Engl J Med. 2003;349:1722-1729.
5. Teh BT, Farnebo F, Kristoffersson U, et al. Autosomal dominant primary hyperparathyroidism and jaw tumor syndrome associated with renal hamartomas and cystic kidney disease: linkage to 1q21-q32 and loss of the wild type allele in renal hamartomas. J Clin Endocrinol Metab. 1996;81:4204-4211.
6. Haven CJ, Wong FK, van Dam EW, et al. A genotypic and histopathological study of a large Dutch kindred with hyperparathyroidism-jaw tumor syndrome. J Clin Endocrinol Metab. 2000;85:1449-1454.
7. Szabó J, Heath B, Hill VM, et al. Hereditary hyperparathyroidism-jaw tumor syndrome: the endocrine tumor gene HRPT2 maps to chromosome 1q21-q31. Am J Hum Genet. 1995;56:944-950.
8. Carpten JD, Robbins CM, Villablanca A, et al. HRPT2, encoding parafibromin, is mutated in hyperparathyroidismjaw tumor syndrome. Nat Genet. 2002;32:676-680.
9. Rozenblatt-Rosen O, Hughes CM, Nannepaga SJ, et al. The parafibromin tumor suppressor protein is part of a human Paf1 complex. Mol Cell Biol. 2005;25:612-620.
10. Aldred MJ, Talacko AA, Savarirayan R, et al. Dental findings in a family with hyperparathyroidism-jaw tumor syndrome and a novel HRPT2 gene mutation. Oral Surg Oral Med Oral Pathol Oral Radiol Endod. 2006;101:212-218.
11. Mizusawa N, Uchino S, Iwata T, et al. Genetic analyses in patients with familial isolated hyperparathyroidism and hyperparathyroidism-jaw tumour syndrome. Clin Endocrinol (Oxf). 2006;65:9-16.
12. Howell VM, Cardinal JW, Richardson AL, Gimm O, Robinson BG, Marsh DJ. Rapid mutation screening for HRPT2 and MEN1 mutations associated with familial and sporadic primary hyperparathyroidism. J Mol Diagn. 2006;8:559-566.
13. Villablanca A, Calender A, Forsberg L, et al. Germline and de novo mutations in the HRPT2 tumour suppressor gene in familial isolated hyperparathyroidism (FIHP). J Med Genet. 2004;41(3):e32.
14. Bradley KJ, Hobbs MR, Buley ID, et al. Uterine tumours are a phenotypic manifestation of the hyperparathyroidismjaw tumour syndrome. J Intern Med. 2005;257:18-26.
15. Cavaco BM, Guerra L, Bradley KJ, et al. Hyperparathyroidism-jaw tumor syndrome in Roma families from Portugal is due to a founder mutation of the HRPT2 gene. J Clin Endocrinol Metab. 2004;89:1747-1752.
16. Pimenta FJ, Gontijo-Silveira LF, Tavares GC, et al. HRPT2 gene alterations in ossifying fibroma of the jaws. Oral Oncol. 2006;42:735-739.
17. Moon SD, Park JH, Kim EM, et al. A novel IVS2-1G>A mutation causes aberrant splicing of the HRPT2 gene in a family with hyperparathyroidism- jaw tumor syndrome. J Clin Endocrinol Metab. 2005;90:878-883.
18. Tan MH, Morrison C, Wang P, et al. Loss of parafibromin immunoreactivity is a distinguishing feature of parathyroid carcinoma. Clin Cancer Res. 2004;10:6629-6637.
19. Pearce SH, Brown EM. Disorders of calcium ion sensing. J Clin Endocrinol Metab. 1996;81:2030-2035.
20. Chikatsu N, Fukumoto S, Suzawa M, et al. An adult patient with severe hypercalcaemia and hypocalciuria due to a novel homozygous inactivating mutation of calciumsensing receptor. Clin Endocrinol (Oxf). 1999;50:537-543.