Hyperparathyroid genes: Sequences reveal answers and questions

Endocrine Practice

Volumn 17, Issue SUPPL. 3, 2011, Pages 18-27

  Marx, Stephen J ^a  

^a NATIONAL INSTITUTE OF DIABETES AND DIGESTIVE AND KIDNEY DISEASES   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

PROTEIN P15; PROTEIN P18; PROTEIN P21; PROTEIN P27;

CALCIUM BLOOD LEVEL; GENE; GENE FUNCTION; GENE IDENTIFICATION; GENE MUTATION; HETEROZYGOTE; HUMAN; HYPERCALCEMIA; HYPERPARATHYROIDISM; HYPOCALCIURIA; PARATHYROID HORMONE RELEASE; REVIEW;

GERM-LINE MUTATION; HUMANS; HYPERPARATHYROIDISM; MUTATION; PROTO-ONCOGENE PROTEINS;

EID: 84860390067     PISSN: 1530891X     EISSN: 19342403     Source Type: Journal    
DOI: 10.4158/EP11067.RA     Document Type: Review

References (74)

1. Schneider AB, Gierlowski TC, Shore-Freedman E, Stovall M, Ron E, Lubin J. Dose-response relationships for radiation-induced hyperparathyroidism. J Clin Endocrinol Metab. 1995;80:254-257.
2. Kifor O, Moore FD Jr, Delaney M, et al. A syndrome of hypocalciuric hypercalcemia caused by autoantibodies directed at the calcium-sensing receptor. J Clin Endocrinol Metab. 2003;88:60-72. (Pubitemid 36115144)
3. Arnold A, Shattuck TM, Mallya SM, et al. Molecular pathogenesis of primary hyperparathyroidism. J Bone Miner Res. 2002;17(suppl 2):N30-N36. (Pubitemid 35222310)
4. Samander EH, Arnold A. Mutational analysis of the vitamin D receptor does not support its candidacy as a tumor suppressor gene in parathyroid adenomas. J Clin Endocrinol Metab. 2006;91:5019-5021. (Pubitemid 44917344)
5. Meir T, Levi R, Lieben L, et al. Deletion of the vitamin D receptor specifcally in the parathyroid demonstrates a limited role for the receptor in parathyroid physiology. Am J Physiol Renal Physiol. 2009;297:F1192-F1198.
6. Canadillas S, Canalejo R, Rodriguez-Ortiz ME, et al. Upregulation of parathyroid VDR expression by extracellular calcium is mediated by ERK1/2-MAPK signaling pathway. Am J Physiol Renal Physiol. 2010;298:F1197-F1204.
7. Wermer P. Genetic aspects of adenomatosis of endocrine glands. Am J Med. 1954;16:363-371.
8. Moldawer MP, Nardi GL, Raker JW. Concomitance of multiple adenomas of the parathyroids and pancreatic islets with tumor of the pituitary: a syndrome with a familial incidence. Am J Med Sci. 1954;228:190-206.
9. Cushman P Jr. Familial endocrine tumors: report of two unrelated kindreds affected with pheochromocytomas, one also with multiple thyroid carcinomas. Am J Med. 1962;32: 352-360.
10. Jackson CE. Hereditary hyperparathyroidism associated with recurrent pancreatitis. Ann Intern Med. 1958;49: 829-836.
11. Foley TP Jr, Harrison HC, Arnaud CD, Harrison HE. Familial benign hypercalcemia. J Pediatr. 1972;81: 1060-1067.
12. Pratt EL, Geren BB, Neuhauser EB. Hypercalcemia and idiopathic hyperplasia of parathyroid glands in infant. J Pediatr. 1947;30:388-399.
13. Hillman DA, Scriver CR, Pedvis S, Shragovitch I. Neonatal familial primary hyperparathyroidism. N Engl J Med. 1964;270:483-490.
14. Marx SJ, Attie MF, Spiegel AM, Levine MA, Lasker RD, Fox M. An association between neonatal severe primary hyperparathyroidism and familial hypocalciuric hypercal-cemia in three kindreds. N Engl J Med. 1982;306:257-264. (Pubitemid 12165026)
15. Marx SJ, Fraser D, Rapoport A. Familial hypocalciuric hypercalcemia: mild expression of the gene in heterozy-gotes and severe expression in homozygotes. Am J Med. 1985;78:15-22. (Pubitemid 15159612)
16. Cutler RE, Reiss E, Ackerman LV. Familial hyperpara-thyroidism: a kindred involving eleven cases, with a discussion of primary chief-cell hyperplasia. N Engl J Med. 1964;270:859-865.
17. Marx SJ, Spiegel AM, Levine MA, et al. Familial hypo-calciuric hypercalcemia: the relation to primary parathyroid hyperplasia. N Engl J Med. 1982;307:416-426. (Pubitemid 12089298)
18. Brown EM, Gamba G, Riccardi D, et al. Cloning and characterization of an extracellular Ca(2+)-sensing receptor from bovine parathyroid. Nature. 1993;366:575-580. (Pubitemid 24035999)
19. Pollak MR, Brown EM, Chou YH, et al. Mutations in the human Ca(2+)-sensing receptor gene cause familial hypo-calciuric hypercalcemia and neonatal severe hyperparathy-roidism. Cell. 1993;75:1297-1303.
20. Pollak MR, Chou YH, Marx SJ, et al. Familial hypocalci-uric hypercalcemia and neonatal severe hyperparathyroid-ism: effects of mutant gene dosage on phenotype. J Clin Invest. 1994;93:1108-1112.
21. Takahashi M, Ritz J, Cooper GM. Activation of a novel human transforming gene, ret, by DNA rearrangement. Cell. 1985;42:581-588. (Pubitemid 16091150)
22. Takahashi M, Buma Y, Iwamoto T, Inaguma Y, Ikeda H, Hiai H. Cloning and expression of the ret proto-onco-gene encoding a tyrosine kinase with two potential trans-membrane domains. Oncogene. 1988;3:571-578. (Pubitemid 19003664)
23. Mulligan LM, Kwok JB, Healey CS, et al. Germ-line mutations of the RET proto-oncogene in multiple endocrine neoplasia type 2A. Nature. 1993;363:458-460. (Pubitemid 23179393)
24. Chandrasekharappa SC, Guru SC, Manickam P, et al. Positional cloning of the gene for multiple endocrine neo-plasia type 1. Science. 1997;276:404-407.
25. Carpten JD, Robbins CM, Villablanca A, et al. HRPT2, encoding parafbromin, is mutated in hyperparathyroidism-jaw tumor syndrome. Nat Genet. 2002;32:676-680. (Pubitemid 35435184)
26. Guarnieri V, Canaff L, Yun FH, et al. Calcium-sensing receptor (CASR) mutations in hypercalcemic states: studies from a single endocrine clinic over three years. J Clin Endocrinol Metab. 2010;95:1819-1829.
27. Lemos MC, Thakker RV. Multiple endocrine neoplasia type 1 (MEN 1): analysis of 1336 mutations reported in the frst decade following identifcation of the gene. Hum Mutat. 2008;29:22-32.
28. Margraf RL, Crockett DK, Krautscheid PM, et al. Multiple endocrine neoplasia type 2 RET protooncogene database: repository of MEN2-associated RET sequence variation and reference for genotype/phenotype correlations. Hum Mutat. 2009;30:548-556.
29. Kloos RT, Eng C, Evans DB, et al (American Thyroid Association Guidelines Task Force). Medullary thyroid cancer: management guidelines of the American Thyroid Association. Thyroid. 2009;19:565-612.
30. Gagel RF, Marx SJ. Multiple endocrine neoplasia. In: Kronenberg HM, Melmed S, Polonsky KS, Larsen PR, eds. Williams Textbook of Endocrinology. 11th ed. Philadelphia, PA: WB Saunders, 2007: 1705-1746.
31. Handkiewicz-Junak D, Czarniecka A, Jarzab B. Molecular prognostic markers in papillary and follicular thyroid cancer: current status and future directions. Mol Cell Endocrinol. 2010;322(1-2):8-28.
32. Krebs LJ, Shattuck TM, Arnold A. HRPT2 mutational analysis of typical sporadic parathyroid adenomas. J Clin Endocrinol Metab. 2005;90:5015-5017. (Pubitemid 41262247)
33. Zhao J, Yart A, Frigerio S, et al. Sporadic human renal tumors display frequent allelic imbalances and novel mutations of the HRPT2 gene. Oncogene. 2007;26:3440-3449. (Pubitemid 46788890)
34. 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. (Pubitemid 37315009)
35. Kifor O, Moore FD Jr, Wang P, et al. Reduced immu-nostaining for the extracellular Ca2+-sensing receptor in primary and uremic secondary hyperparathyroidism. J Clin Endocrinol Metab. 1996;81:1598-1606.
36. Brown EM. Clinical utility of calcimimetics targeting the extracellular calcium-sensing receptor (CaSR). Biochem Pharmacol. 2010;80:297-307.
37. Agarwal SK, Scacheri PC, Rice TS, et al. MEN1 gene: mutation and pathophysiology. Ann d'Endocrinol. 2006;67(suppl 4):1S12-1S13.
38. Agarwal SK, Simonds WF, Marx SJ. The parafbromin tumor suppressor protein interacts with actin-binding proteins actinin-2 and actinin-3. Mol Cancer. 2008;7:65.
39. Sawyers CL. Rational therapeutic intervention in cancer: kinases as drug targets. Curr Opin Genet Dev. 2002;12: 111-115. (Pubitemid 34094999)
40. Natoli C, Perrucci B, Perrotti F, Falchi L, Iacobelli S (Consorzio Interuniversitario Nazionale per Bio-Oncologia [CINBO]). Tyrosine kinase inhibitors. Curr Cancer Drug Targets. 2010;10:462-483.
41. Black J. A life in new drug research. Br J Pharmacol. 2010;160(suppl 1):S15-S25.
42. Lefkowitz RJ. Historical review: a brief history and personal retrospective of seven-transmembrane receptors. Trends Pharmacol Sci. 2004;25:413-422. (Pubitemid 38981557)
43. Nemeth EF. Calcimimetic and calcilytic drugs: just for parathyroid cells? Cell Calcium. 2004;35:283-289. (Pubitemid 38292372)
44. Thorgeirsson U, Costa J, Marx SJ. The parathyroid glands in familial hypocalciuric hypercalcemia. Hum Pathol. 1981;12:229-237. (Pubitemid 11155993)
45. Saidak Z, Mentaverri R, Brown EM. The role of the calcium-sensing receptor in the development and progression of cancer. Endocr Rev. 2009;30:178-195.
46. Arnoux JB, de Lonlay P, Ribeiro MJ, et al. Congenital hyperinsulinism. Early Hum Dev. 2010;86:287-294.
47. Watkins MG, Dejkhamron P, Huo J, Vazquez DM, Menon RK. Persistent neonatal thyrotoxicosis in a neonate secondary to a rare thyroid-stimulating hormone receptor activating mutation: case report and literature review. Endocr Pract. 2008;14:479-483.
48. Segaloff DL. Chapter 4: diseases associated with mutations of the human lutropin receptor. Prog Mol Biol Transl Sci. 2009;89:97-114.
49. Simonds WF, James-Newton LA, Agarwal SK, et al. Familial isolated hyperparathyroidism: clinical and genetic characteristics of 36 kindreds. Medicine (Baltimore). 2002; 81:1-26. (Pubitemid 34081284)
50. Simonds WF, Robbins CM, Agarwal SK, Hendy GN, Carpten JD, Marx SJ. Familial isolated hyperparathy-roidism is rarely caused by germline mutation in HRPT2, the gene for the hyperparathyroidism-jaw tumor syndrome. J Clin Endocrinol Metab. 2004;89:96-102. (Pubitemid 38183866)
51. Warner J, Epstein M, Sweet A, et al. Genetic testing in familial isolated hyperparathyroidism: unexpected results and their implications. J Med Genet. 2004;41:155-160. (Pubitemid 38333791)
52. Warner JV, Nyholt DR, Busfeld F, et al. Familial isolated hyperparathyroidism is linked to a 1.7 Mb region on chromosome 2p13.3-14. J Med Genet. 2006;43:e12.
53. Heath H III, Jackson CE, Otterud B, Leppert MF. Genetic linkage analysis in familial benign (hypocalci-uric) hypercalcemia: evidence for locus heterogeneity. Am J Hum Genet. 1993;53:193-200. (Pubitemid 23313750)
54. Nesbit MA, Hannan FM, Graham U, et al. Identifcation of a second kindred with familial hypocalciuric hypercalce-mia type 3 (FHH3) narrows localization to a3.5 megabase pair region on chromosome 19q13.3.J Clin Endocrinol Metab. 2010, 95, 1947-1954.
55. Chen JM, Férec C, Cooper DN. Revealing the human mutome. Clin Genet. 2010;78:310-320.
56. Cavallari I, Silic-Benussi M, Rende F, et al. Decreased expression and promoter methylation of the menin tumor suppressor in pancreatic ductal adenocarcinoma. Genes Chromosomes Cancer. 2009;48:383-396.
57. Fukuuchi A, Nagamura Y, Yaguchi H, Ohkura N, Obara T, Tsukada T. A whole MEN1 gene deletion fanked by Alu repeats in a family with multiple endocrine neoplasia type 1. Jpn J Clin Oncol. 2006;36:739-744.
58. Owens M, Ellard S, Vaidya B. Analysis of gross deletions in the MEN1 gene in patients with multiple endocrine neo-plasia type 1. Clin Endocrinol (Oxf). 2008;68:350-354. (Pubitemid 351257851)
59. Ahmed S. Prenatal diagnosis of beta-thalassemia: 12 years' experience at a single laboratory in Pakistan. Prenatal Diagn. 2007;27:1224-1227. (Pubitemid 350305438)
60. Deshpande A, Sicinski P, Hinds PW. Cyclins and cdks in development and cancer: a perspective. Oncogene. 2005; 24:2909-2915. (Pubitemid 40638099)
61. Li W, Sanki A, Karim RZ, et al. The role of cell cycle regulatory proteins in the pathogenesis of melanoma. Pathology. 2006;38:287-301. (Pubitemid 44266625)
62. Swiss VA, Casaccia P. Cell-context specifc role of the E2F/Rb pathway in development and disease. Glia. 2010; 58:377-390.
63. Franklin DS, Godfrey VL, O'Brien DA, Deng C, Xiong Y. Functional collaboration between different cyclin-depen-dent kinase inhibitors suppresses tumor growth with distinct tissue specifcity. Mol Cell Biol. 2000;20:6147-6158. (Pubitemid 30613062)
64. Pellegata NS, Quintanilla-Martinez L, Siggelkow H, et al. Germ-line mutations in p27Kip1 cause a multiple endocrine neoplasia syndrome in rats and humans [published correction appears in Proc Nat Acad Sci USA. 2006;103:19213].
65. Proc Nat Acad Sci USA. 2006;103:15558-15563.
66. Georgitsi M, Raitila A, Karhu A, et al. Germline CDKN1B/p27Kip1 mutation in multiple endocrine neopla-sia. J Clin Endocrinol Metab. 2007;92:3321-3325. (Pubitemid 47236408)
67. Vierimaa O, Villablanca A, Alimov A, et al. Mutation analysis of MEN1, HRPT2, CASR, CDKN1B, and AIP genes in primary hyperparathyroidism patients with features of genetic predisposition. J Endocrinol Invest. 2009; 32:512-518.
68. Ozawa A, Agarwal SK, Mateo CM, et al. The parathyroid/pituitary variant of multiple endocrine neoplasia type 1 usually has causes other than p27Kip1 mutations. J Clin Endocrinol Metab. 2007;92:1948-1951. (Pubitemid 46997215)
69. Occhi G, Trivellin G, Ceccato F, et al. Prevalence of AIP mutations in a large series of sporadic Italian acrome-galic patients and evaluation of CDKN1B status in acro-megalic patients with multiple endocrine neoplasia. Eur J Endocrinol. 2010;163:369-376.
70. Agarwal SK, Mateo C, Marx SJ. Rare germline mutations in cyclin-dependent kinase inhibitor genes in multiple endocrine neoplasia type 1 and related states. J Clin Endocrinol Metab. 2009;94:1826-1834.
71. Hao W, Skarulis MC, Simonds WF, et al. Multiple endocrine neoplasia type 1 variant with frequent prolactinoma and rare gastrinoma. J Clin Endocrinol Metab. 2004;89: 3776-3784. (Pubitemid 39071471)
72. Biesecker LG, Mullikin JC, Facio FM, et al. The ClinSeq project: piloting large-scale genome sequencing for research in genomic medicine. Genome Res. 2009;19:1665-1674.
73. Jiao Y, Shi C, Edil BH, et al. DAXX/ATRX, MEN1, and mTOR pathway genes are frequently altered in pancreatic neuroendocrine tumors. Science. 2011;331:1199-1203.
74. Choi M, Scholl UI, Yue P, et al. K+ channel mutations in adrenal aldosterone-producing adenomas and hereditary hypertension. Science. 2011;331:768-772.