Hyperparathyroidism-jaw tumor syndrome: The HRPT2 locus is within a 0.7-cM region on chromosome 1q

American Journal of Human Genetics

Volumn 64, Issue 2, 1999, Pages 518-525

  Hobbs, Maurine R ^a   Pole, Ann R ^a   Pidwirny, Gregory N ^b   Rosen, Irving B ^c   Zarbo, Richard J ^d   Coon, Hilary ^a   Heath III, Hunter ^a,e   Leppert, Mark ^a   Jackson, Charles E ^d  

^a UNIVERSITY OF UTAH SCHOOL OF MEDICINE   (United States)

^b Island Lakes Medical Center   (Canada)

^c UNIVERSITY OF TORONTO   (Canada)

^d HENRY FORD HOSPITAL   (United States)

^e ELI LILLY AND COMPANY   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

DNA;

ADENOMA; ARTICLE; CHROMOSOME 1; CHROMOSOME MAP; FEMALE; GENETIC MARKER; GENETICS; HUMAN; HYPERPARATHYROIDISM; MALE; MANDIBLE TUMOR; MAXILLA TUMOR; PARATHYROID TUMOR; PEDIGREE; SYNDROME;

ADENOMA; CHROMOSOME MAPPING; CHROMOSOMES, HUMAN, PAIR 1; DNA, NEOPLASM; FEMALE; GENETIC MARKERS; HUMANS; HYPERPARATHYROIDISM; MALE; MANDIBULAR NEOPLASMS; MAXILLARY NEOPLASMS; PARATHYROID NEOPLASMS; PEDIGREE; SYNDROME;

EID: 0033073851     PISSN: 00029297     EISSN: None     Source Type: Journal    
DOI: 10.1086/302259     Document Type: Article

References (38)

1. Cottingham RW Jr, Idury RM, Schäffer AA (1993) Faster sequential genetic linkage computations. Am J Hum Genet 53: 252-263
2. Dib C, Faure S, Fizames C, Samson D, Drouot N, Vignal A, Millasseau P, et al (1996) A comprehensive genetic map of the human genome based on 5,264 microsatellites. Nature 380:152-154
3. Dinchuk JE, Car BD, Focht RJ, Johnston JJ, Jaffee BD, Covington MB, Contel NR, et al (1995) Renal abnormalities and an altered inflammatory response in mice lacking cyclooxygenase II. Nature 378:406-409
4. Dinnen JS, Greenwood RH, Jones JH, Walker DA, Williams ED (1977) Parathyroid carcinoma in familial hyperparathyroidism. J Clin Pathol 30:966-975
5. Eberhart CE, Coffey RJ, Radhika A, Giardiello FM, Ferrenbach S, DuBois RN (1994) Up-regulation of cyclooxygenase 2 gene expression in human colorectal adenomas and adenocarcinomas. Gastroenterology 107:1183-1188
6. Eversole LR, Leider AS, Nelson K (1985) Ossifying fibroma: a clinicopathologic study of sixty-four cases. Oral Surg Oral Med Oral Pathol 60:505-511
7. Firat D, Stutzman L (1968) Fibrous dysplasia of the bone: review of twenty-four cases. Am J Med 44:421-429
8. Fujikawa M, Okamura K, Sato K, Mizokami T, Tamaki K, Yanagida T, Fujishima M (1998) Familial isolated hyperparathyroidism due to multiple adenomas associated with ossifying jaw fibroma and multiple uterine adenomyomatous polyps. Eur J Endocrinol 138:557-561
9. Heath H III, Jackson CE, Otterud B, Leppert MF (1993) Genetic linkage analysis in familial benign (hypocalciuric) hypercalcemia: evidence for locus heterogeneity. Am J Hum Genet 53:193-200
10. Heath H III, Odelberg S, Jackson CE, Teh BT, Hayward N, Larsson C, Buist NR, et al (1996) Clustered inactivating mutations and benign polymorphisms of the calcium receptor gene in familial benign hypocalciuric hypercalcemia suggest receptor functional domains. J Clin Endocrinol Metab 81:1312-1317
11. Hobbs MR, Heath H III (1998) Familial hyperparathyroid syndromes. In: Favus MJ (ed) Primer on the metabolic bone diseases and disorders of mineral metabolism. Lippincott-Raven, Philadelphia, pp 187-189
12. Huff V, Saunders GF (1993) Wilms tumor genes. Biochim Biophys Acta 1155:295-306
13. Inoue H, Miki H, Oshimo K, Tanaka K, Monden Y, Yamamoto A, Kagawa S, et al (1995) Familial hyperparathyroidism associated with jaw fibroma: case report and literature review. Clin Endocrinol 43:225-229 (discussion, 230)
14. Jackson CE (1958) Hereditary hyperparathyroidism associated with recurrent pancreatitis. Ann Intern Med 49:829-836
15. Jackson CE, Norum RA, Boyd SB, Talpos GB, Wilson SD, Taggart RT, Mallette LE (1990) Hereditary hyperparathyroidism and multiple ossifying jaw fibromas: a clinically and genetically distinct syndrome. Surgery 108:1006-1012 (discussion, 1012-1013)
16. Kakinuma A, Morimoto I, Nakano Y, Fujimoto R, Ishida O, Okada Y, Inokuchi N, et al (1994) Familial primary hyperparathyroidism complicated with Wilms' tumor. Intern Med 33:123-126
17. Kennett S, Pollick H (1971) Jaw lesions in familial hyperparathyroidism. Oral Surg Oral Med Oral Pathol 31:502-510
18. Kruglyak L, Daly MJ, Reeve-Daly MP, Lander ES (1996) Parametric and nonparametric linkage analysis: a unified multipoint approach. Am J Hum Genet 58:1347-1363
19. Lathrop GM, Lalouel JM (1984) Easy calculations of lod scores and genetic risks on small computers. Am J Hum Genet 36:460-465
20. Liebhaber SA, Emery JG, Urbanek M, Wang XK, Cooke NE (1990) Characterization of a human cDNA encoding a widely expressed and highly conserved cysteine-rich protein with an unusual zinc-finger motif. Nucleic Acids Res 18: 3871-3879
21. Mallette LE, Malini S, Rappaport MP, Kirkland JL (1987) Familial cystic parathyroid adenomatosis. Ann Intern Med 107:54-60
22. Matsunaga E (1981) Genetics of Wilms' tumor. Hum Genet 57:231-246
23. Ott J (1989) Computer-simulation methods in human linkage analysis. Proc Natl Acad Sci USA 86:4175-4178
24. _ (1996) Complex traits on the map. Nature 379: 772-773
25. Pearce SH, Trump D, Wooding C, Besser GM, Chew SL, Grant DB, Heath DA, et al (1995) Calcium-sensing receptor mutations in familial benign hypercalcemia and neonatal hyperparathyroidism. J Clin Invest 96:2683-2692
26. Pidwirny GN, Szabo J, Hobbs M, Heath H, Jackson CE (1995) Follow-up of two hyperparathyroidism-jaw tumor syndrome families reported in 1971 and 1981 reveals that they are related and that parathyroid cancer is part of the syndrome. Am J Hum Genet Suppl 57:A75
27. Regezi JA, Kerr DA, Courtney RM (1978) Odontogenic tumors: analysis of 706 cases. J Oral Surg 36:771-778
28. Rosen IB, Palmer JA (1981) Fibroosseous tumors of the facial skeleton in association with primary hyperparathyroidism: an endocrine syndrome or coincidence? Am J Surg 142: 494-498
29. Schuler GD, Boguski MS, Stewart EA, Stein LD, Gyapay G, Rice K, White RE, et al (1996) A gene map of the human genome. Science 274:540-546
30. Siderovski DP, Hessel A, Chung S, Mak TW, Tyers M (1996) A new family of regulators of G-protein-coupled receptors? Curr Biol 6:211-212
31. Siderovski DP, Heximer SP, Forsdyke DR (1994) A human gene encoding a putative basic helix-loop-helix phosphoprotein whose mRNA increases rapidly in cycloheximide-treated blood mononuclear cells. DNA Cell Biol 13:125-147
32. Slootweg PJ, Muller H (1990) Differential diagnosis of fibroosseous jaw lesions: a histological investigation on 30 cases. J Craniomaxillofac Surg 18:210-214
33. Szabó J, Heath B, Hill VM, Jackson CE, Zarbo RJ, Mallette LE, Chew SL, et al (1995) Hereditary hyperparathyroidism-jaw tumor syndrome: the endocrine tumor gene HRPT2 maps to chromosome 1q21-q31. Am J Hum Genet 56: 944-950
34. Teh BT, Farnebo F, Kristoffersson U, Sundelin B, Cardinal J, Axelson R, Yap A, et al (1996) 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 81:4204-4211
35. Teh BT, Farnebo F, Twigg S, Hoog A, Kytola S, Korpi-Hyovalti E, Wong FK, et al (1998) Familial isolated hyperparathyroidism maps to the hyperparathyroidism-jaw tumor locus in 1q21-q32 in a subset of families. J Clin Endocrinol Metab 83:2114-2120
36. Warnakulasuriya S, Markwell BD, Williams DM (1985) Familial hyperparathyroidism associated with cementifying fibromas of the jaws in two siblings. Oral Surg Oral Med Oral Pathol 59:269-274
37. Weeks DE, Ott J, Lathrop GM (1990) SLINK: a general simulation program for linkage analysis. Am J Hum Genet Suppl 47:A204
38. Zarbo RJ, Boyd SB, Stone CH, Jackson CE (1993) Syndrome of hereditary hyperparathyroidism and fibro-osseous jaw tumors: clinical, pathologic and genetic distinction from other multiple endocrine neoplasia syndromes. Mod Pathol 6:42A