Skip to main content
SpringerLink
Log in

Genetics of Endocrine and Metabolic Disorders: Parathyroid

  • Published:
Reviews in Endocrine and Metabolic Disorders Aims and scope Submit manuscript

This is a preview of subscription content, log in via an institution to check access.

Access this article

Log in via an institution

Price excludes VAT (USA)
Tax calculation will be finalised during checkout.

Instant access to the full article PDF.

Institutional subscriptions

References

  1. Thakker RV, Juppner H. Genetic disorders of calcium homeostasis caused by abnormal regulation of parathyroid hormone secretion or responsiveness. In: DeGroot LJ, Jameson JL eds. Endocrinology 4th edn. Philadelphia, USA: WB Saunders Company, 2001:1062-1074.

    Google Scholar 

  2. Bilezikian JP, Thakker RV. Hypoparathyroidism. Current Opinion in Endocrinology and Diabetes 1998;4:427-432.

    Google Scholar 

  3. Arnold A, Kim HG, Gaz RD, Eddy RL, Fukushima Y, Byers MG, Shows TB, Kronenberg HM. Molecular cloning and chromosomal mapping of DNA rearranged with the parathyroid hormone gene in a parathyroid adenoma. J Clin Invest 1989;83:2034-2040.

    Google Scholar 

  4. Motokura T, Bloom T, Kim HG, Juppner H, Ruderman JV, Kronenberg HM, Arnold A. A novel cyclin encoded by a bcl1-linked candidate oncogene. Nature 1991;350:512-515.

    Google Scholar 

  5. Hsi ED, Zukerberg LR, Yang WI, Arnold A. Cyclin D1/PRAD1 expression in parathyroid adenomas: an immunohistochemical study. J Clin Endocrinol Metab 1996;81:1736-1739.

    Google Scholar 

  6. Cryns VL, Thor A, Xu HJ, Hu SX, Wierman ME, Vickery AL, Jr, Benedict WF, Arnold A. Loss of the retinoblastoma tumor-suppressor gene in parathyroid carcinoma. N Engl J Med 1994;330:757-761.

    Google Scholar 

  7. Pei L, Melmed S, Scheithauer B, Kovacs K, Benedict WF, Prager D. Frequent loss of heterozygosity at the retinoblastoma susceptibility gene (RB) locus in aggressive pituitary tumors: Evidence for a chromosome 13 tumour suppressor gene other than RB. Cancer Res 1995;55:1613-1616.

    Google Scholar 

  8. Cryns VL, Yi SM, Tahara H, Gaz RD, Arnold A. Frequent loss of chromosome arm 1p DNA in para-thyroid adenomas. Genes Chrom Cancer 1995;13:9-17.

    Google Scholar 

  9. Arnold A, Brown MF, Urena P, Gaz RD, Sarfati E, Drueke TB. Monoclonality of parathyroid tumors in chronic renal failure and in primary parathyroid hyperplasia. J Clin Invest 1995;95:2047-2053.

    Google Scholar 

  10. Thakker RV. Multiple endocrine neoplasia—syndromes of the twentieth Century. J Clin Endo Metab 1998;83:2617-2620.

    Google Scholar 

  11. Chandrasekharappa SC, Guru SC, Manickam P, Olufemi S-E, Collins FS, Emmert-Buck MR, Debelenko LV, Zhuang Z, Lubensky IA, Liotta LA, Crabtree JS, Wang Y, Roe BA, Weisemann J, Boguski MS, Agarwal SK, Kester MB, Kim YS, Heppner C, Dong Q, Spiegel AM, Burns AL, Marx SJ. Positional cloning of the gene for multiple endocrine neoplasia-type 1. Science 1997;276:404-407.

    Google Scholar 

  12. The European Consortium on MEN1. Identification of the multiple endocrine neoplasia type 1 (MEN1) gene. Hum Mol Genet 1997;6:1177-1183.

    Google Scholar 

  13. Thakker RV, Multiple Endocrine Neoplasia Type 1. In: DeGroot LJ, Jameson JL, eds. Endocrinology 4th edn. Philadelphia, USA: WB Saunders Company, 2001:2503-2517.

    Google Scholar 

  14. Pannett AAJ, Kennedy AM, Turner JJO, Forbes SA, Cavaco BM, Bassett JHD, Cianferotti L, Harding B, Shine B, Flinter F, Maidment CGH, Trembath R, Thakker RV, Multiple endocrine neoplasia type 1 (MEN1) germline mutations in familial isolated primary hyperparathyroidism. Clinical Endocrinology 2003;58:639-646.

    Google Scholar 

  15. Agarwal SK, Guru SC, Heppner C, Erdos MR, Collins RM, Park SY, Saggar S, Chandrasekharappa SC, Collins FS, Spiegel AM, Marx SJ, Burns AL. Menin interacts with the AP1 transcription factor JunD and represses JunD-activated transcription. Cell 1999;84:730-735.

    Google Scholar 

  16. Heppner C, Bilimoria KY, Agarwal SK, Kester M, Whitty LJ, Guru SC, Chandrasecharappa SC, Collins FS, Spiegel AM, Marx SJ, Burns AL. The tumour suppressor protein and inhibits NF-kappaB-mediated transactivation. Oncogene 2001;20(36):4917-4925.

    Google Scholar 

  17. Kaji H, Canaff L, Lebrun JJ, Goltzman D, Hendy GN. Inactivation of menin, a Smad3-interacting protein, blocks transforming growth factor type beta signalling. Proc Natl Acad Sci 2001;98(7):3837-2842.

    Google Scholar 

  18. Lemmens IH, Forsberg L, Pannett AA, Meyen E, Piehl F, Turner JJ, Van de Ven WJ, Thakker RV, Larsson C, Kas K. Menin interacts directly with the homeobox-containing protein Pem. Biochem Biophys Res Commun 2001;286:426-431.

    Google Scholar 

  19. Lopez-Egido J, Cunningham J, Berg M, Oberg K, Bongcam-Rudloff E, Gobl A. Menin's interaction with glial fibrillary acidic protein and vimentin suggests a role for the intermediate filament network in regulating menin activity. Exp Cell Res 2002;278:175-183.

    Google Scholar 

  20. Crabtree JS, Scacheri PC, Ward JM, Garrett-Beal L, Emmert-Buck MR, Edgemon KA, Lorang D, Libutti SK, Chandrasekharappa SC, Marx SJ, Spiegel AM, Collins FS. A mouse model of multiple endocrine neoplasia, type 1, develops multiple endocrine tumours. Proc Natl Acad Sci 2001;98:1118-1123.

    Google Scholar 

  21. Scacheri PC, Crabtree JS, Novotny EA, Garrett-Beal L, Chen A, Edgemon KA, Marx SJ, Chandrasekharappa SC, Collins FS. Bidirectional transcriptional activity of PGK—Neomycin and unexpected embryonic lethality in heterozygote chimeric knockout mice. Genesis 2001;30:259-263.

    Google Scholar 

  22. Bertolino P, Radovanovic I, Casse H, Aguzzi A, Wang Z-Q, Zhang C-X. Genetic ablation of the tumor suppressor menin causes lethality at mid-gestation with defects in multiple organs. Mechanisms of Development 2003;120:549-560.

    Google Scholar 

  23. Sowa H, Kaji H, Canaff L, Hendy GN, Tsukamoto T, Yamaguchi T, Miyazono K, Sugimoto T, Chihara K. Inactivation of menin, the product of multiple endocrine neoplasia type 1 gene, inhibits the commitment of multipotential mesenchymal stem cells into the osteoblast lineage. J Biol Chem 2003;23:21058-21069.

    Google Scholar 

  24. Mulligan LM, Kwok JB, Healey CS, Elsdon MJ, Eng C, Gardner E, Love DR, Mole SE, Moore JK, Papi L, Ponder BAJ. Germline mutations of the RET proto-oncogene in multiple endocrine neoplasia type 2a (MEN2a). Nature 1993;363:458-460.

    Google Scholar 

  25. Mulligan LM, Ponder BAJ. Multiple endocrine neoplasia type 2. J Clin Endocrinol Metab 1995;80:1989-1995.

    Google Scholar 

  26. Pausova Z, Soliman E, Amizuka N, Janicic N, Konrad EM, Arnold A, Goltzman D, Hendy GN. Analysis of the RET proto-oncogene in sporadic parathyroid tumours. J Bone Miner Res 1994;9:S151.

    Google Scholar 

  27. Kawai K, Iwashita T, Marakarim H, Hiraiwa N, Yoshiki A, Kusakalse M, Ona K, Iida K, Nakayama A, Takahashi M. Tissue specific carcinogenesis in transgenic mice expressing the RET proto-oncogene with a multiple endocrine neoplasia type 2A mutation. Cancer Research 2000;60:5254-5260.

    Google Scholar 

  28. Schuchardt A, D'Agati V, Larsson-Blomberg L, Constantini F, Pachris V. Defects in the kidney and enteric nervous system of mice lacking the tyrosine-kinase receptor Ret. Nature 1994;367:380-383.

    Google Scholar 

  29. Cavaco BM, Barros L, Pannett AAJ, Ruas L, Carvalheiro M, Ruas MMA, Krausz T, Santos MA, Sobrinho LG, Leite V and Thakker RV. The hyperparathyroidism-jaw tumour syndrome in a Portuguese kindred. Q J Med 2001;94:1-10.

    Google Scholar 

  30. Carpten JD, Robbins CM, Villablanca A, Forsberg L, Presciuttini S, Bailey-Wilson J, Simonds WF, Gillanders EM, Kennedy AM, Chen JD, Agarwal SK, Sood R, Jones MP, Moses TY, Haven C, Petillo D, Leotlela PD, Harding B, Cameron D, Pannett AA, Höög A, Heath H III, James-Newton LA, Robinson B, Zarbo RJ, Cavaco BM, Wassif W, Perrier ND, Rosen IB, Kristoffersson U, Turnpenny PD, Farnebo LO, Besser GM, Jackson CE, Morreau H, Trent JM, Thakker RV, Marx SJ, Teh BT, Larsson C, Hobbs MR. HRPT2, encoding parafibromin, is mutated in hyperparathyroidism-jaw tumor syndrome. Nature Genetics 2002;32:676-680.

    Google Scholar 

  31. Pollak MR, Brown EM, Chou YH, Hebert SC, Marx SJ, Steinmann B, Levi T, Seidman CE, Seidman JG. Mutations in the human Ca2+-sensing receptor gene cause familial hypocalciuric hypercalcemia and neonatal severe hyper-parathyroidism. Cell 1993;75:1297-1303.

    Google Scholar 

  32. Brown EM, MacLeod RJ. Extracellular calcium-sensing and extracellular calcium signalling. Phsyiological Reviews 2001;81:239-297.

    Google Scholar 

  33. Pollak MR, Chou YH, Marx SJ, Steinmann B, Cole DE, Brandi ML, Papapoulos SE, Menko FH, Hendy GN, Brown EM, Seidman CE, Seidman JG. Familial hypocalciuric hypercalcaemia and neonatal severe hyperparathyroidism. Effects of mutant gene dosage on phenotype. J Clin Invest 1994;93:1108-1112.

    Google Scholar 

  34. Heath H 3rd, Jackson CE, Otterud B, Leppert MF. Genetic linkage analysis of familial benign (hypocalciuric) hypercalcemia: Evidence for locus heterogeneity. Am J Hum Genet 1993;53:193-200.

    Google Scholar 

  35. Lloyd SE, Pannett AA, Dixon PH, Whyte MP, Thakker RV. Localisation of the Oklahoma variant of Familial Benign Hypercalcaemic (FBHOk) to chromosome 19q13. Am J Hum Genet 1999;64:189-195.

    Google Scholar 

  36. Schipani E, Kruse K, Jüppner H. A constitutively active mutant PTH-PTHrP receptor in Jansen-type metaphyseal chondrodysplasia. Science 1995;268:98-100.

    Google Scholar 

  37. Schipani E, Langman CB, Parfitt AM, Jensen GS, Kikuchi S, Kooh SW, Cole WG, Juppner H. Consitutively activated receptors for parathyroid hormone and parathyroid hormone-related peptide and parathyroid hormone-related peptide in Jansen's metaphyseal chondrodysplasia. N Eng J Med 1996;335:708-714.

    Google Scholar 

  38. Ewart AK, Morris CA, Atkinson D, Jin W, Sternes K, Spallone P, Stock AD, Leppert M, Keating MT. Hemizygosity at the elastin locus in a developmental disorder, Williams syndrome. Nature Genet 1993;5:11-17.

    Google Scholar 

  39. Tassabehji M, Metcalfe K, Fergusson WD, Carette MJ, Dore JK, Donnai D, Read AP, Proschel C, Gutowski NJ, Mao X, Sheer D. LIM-kinase deleted in Williams syndrome. Nat Genet 1966;272-273.

  40. Arnold A, Horst SA, Gardella TJ, Baba H, Levine MA, Kronenberg HM. Mutations of the signal peptide encoding region of preproparathyroid hormone gene in isolated hypoparathyroidism. J Clin Invest 1990;86:1084-1087.

    Google Scholar 

  41. Karaplis AC, Lim SK, Baba H, Arnold A, Kronenberg HM. Inefficient membrane targeting, translocation, and proteolytic processing by signal peptidase of a mutant preproparathyroid hormone protein. J Biol Chem 1995;27:1629-1635.

    Google Scholar 

  42. Sunthornthepvarakul T, Churesigaew S, Ngowngarmratana S. A novel mutation of the signal peptide of the pre-pro-parathyroid horome gene associated with autosomal recessive familial isolated hypoparathyroidism. J Clin Endo Metab 1999;84:3792-3796.

    Google Scholar 

  43. Parkinson DB, Thakker RV. A donor splice site mutation in the parathyroid hormone gene is associated with autosomal recessive hypoparathyroidism. Nature Genet 1992;1:149-153.

    Google Scholar 

  44. Günther T, Chen Z-F, Kim J, Priemel M, Rueger JM, Amling M, Moseley JM, Martin TJ, Anderson DJ, Karsenty G. Genetic ablation of parathyroid glands reveals another source of parathyroid hormone. Nature 2000;406:199-203.

    Google Scholar 

  45. Ding C, Buckingham B, Levine MA. Familial isolated hypoparathyroidism caused by a mutation in the gene for the trascription factor GCMB. Journal of Clinical Endocrinology 2001;108:1215-1220.

    Google Scholar 

  46. Whyte MP, Weldon VV. Idiopathic hypoparathyroidism presenting with seizures during infancy: X-linked recessive inheritance in a large Missouri kindred. J Pediatr 1981;99:608-611.

    Google Scholar 

  47. Mumm S, Whyte MP, Thakker RV, Buetow KH, Schlessinger D. mtDNA analysis shows common ancestry in two kindreds with X-linked recessive hypoparathyroidism and reveals a heteroplasmic silent mutation. Am J Human Genet 1997;60:153-159.

    Google Scholar 

  48. Thakker RV, Davies KE, Whyte MP, Wooding C, O'Riordan JL. Mapping the gene causing X-linked recessive idiopathic hypoparathyroidism to Xq26-Xq27 by linkage studies. J Clin Invest 1990;86:40-45.

    Google Scholar 

  49. Aaltonen J, Bjorses P, Sandkuijl L, Perheentupa J, Peltonen L. An autosomal locus causing autoimmune disease: Autoimmune polyglandular disease type 1 assigned to chromosome 21. Nature Genet 1994;8:83-87.

    Google Scholar 

  50. Nagamine K, Peterson P, Scott HS, Kudoh J, Minoshima S, Heino M, Krohn KJ, Lalioti MD, Mullis PE, Antonarakis SE, Kawasaki K, Asakawa S, Ito F, Shimizu N. Positional cloning of the APECED gene. Nature Genet 1997;17:393-398.

    Google Scholar 

  51. The Finnish-German APECED consortium: An autoimmune disease, APECED, caused by mutations in a novel gene featuring two PHD-type zinc finger domains. Nature Genet 1997;17:399-403.

    Google Scholar 

  52. Liston A, Lesage S, Wilson J, Peltonen L, Goodnow CC. Aire regulates negative selection of organ-specific T cells. Nature Immunology 2003;4:350-354.

    Google Scholar 

  53. Scambler PJ, Carey AH, Wyse RK, Roach S, Dumanski JP, Nordenskjold M, Williamson R. Microdeletions within 22q11 associated with sporadic and familial DiGeorge syndrome. Genomics 1991;10:201-206.

    Google Scholar 

  54. Monaco G, Pignata C, Rossi E, Mascellaro O, Cocozza S, Ciccimarra F. DiGeorge anomaly associated with 10p deletion. Am J Med Genet 1991;39:215-216.

    Google Scholar 

  55. Gong W, Emanuel BS, Collins J, Kim DH, Wang Z, Chen F, Zhang G, Roe B, Budarf ML. A transcription map of the DiGeorge and velo-cardio-facial syndrome minimal critical region on 22q11. Hum Mol Genet 1996;5:789-800.

    Google Scholar 

  56. Budarf ML, Collins J, Gong W, Roe B, Wang Z, Bailey LC, Sellinger B, Michaud D, Driscoll DA, Emanuel BS. Cloning a balanced translocation associated with DiGeorge syndrome and identification of a disrupted candidate gene. Nature Genet 1995;10:269-278.

    Google Scholar 

  57. Yamagishi H, Garg V, Matsuoka R, Thomas T, Srivastava D. A molecular pathway revealing a genetic basis for human cardiac and craniofacial defects. Science 1999;283:1158-1161.

    Google Scholar 

  58. Lindsay EA, Botta A, Jurecic V, Caraltini-Rivera S, Cheah Y-C, Rosenblatt HM, Bradley A, Baldini A. Congential heart disease in mice deficient for the DiGeorge syndrome region. Nature 1999;401:379-383.

    Google Scholar 

  59. Magnaghi P, Roberts C, Lorain S, Lipinski M, Scambler PJ. HIRA, a mammalian homologue of Saccharomyces cerevisiae transcriptional co-repressors, interacts with Pax3 Nature Genetics 1998;20:74-77.

    Google Scholar 

  60. Bilous RW, Murty G, Parkinson DB, Thakker RV, Coulthard MG, Burn J, Mathias D, Kendall-Taylor P. Autosomal dominant familial hypoparathyroidism, sensineural deafness and renal dysplasia. N Engl J Med 1992;327:1069-1084.

    Google Scholar 

  61. Van Esch H, Groenen P, Nesbit MA, Schuffenhauer S, Lichtner P, Vanderlinden G, Harding B, Beetz R, Bilous RW, Holdaway I, Shaw NJ, Fryns J-P, Van den Ven W, Thakker RV, Devriendt K. GATA3 haploinsufficiency causes human HDR syndrome. Nature 2000;406:419-422.

    Google Scholar 

  62. Pandolfi PP, Roth ME, Karis A, Leonard MW, Dzierzak E, Grosveld FG, Engel JD, Lindenbaum MH. Targeted disruption of the GATA3 gene causes severe abnormalities in the nervous system and in fetal liver haematopoiesis. Nature Genetics 1995;11:40-44.

    Google Scholar 

  63. Zupanc ML, Moraes CT, Shanske S, Langman CB, Ciafaloni E, DiMauro S. Deletions of mitochondrial DNA in patients with combined features of Kearns-Sayre and MELAS syndromes. Ann Neurol 1991;29:680-683.

    Google Scholar 

  64. Isotani H, Fukumoto Y, Kawamura H, Furukawa K, Ohsawa N, Goto Y, Nishino I, Nonaka I. Hypoparathyroidism and insulin-dependent diabetes mellitus in a patient with Kearns-Sayre syndrome harbouring a mitochondrial DNA deletion. Clin Endocrinol 1996;45:637-641.

    Google Scholar 

  65. Dionisi-Via C, Garavaglia B, Burlina AB, Bertini E, Saponara I, Sabetta G, Taroni F. Hypoparathyroidism in mitochondrial trifunctional protein deficiency. J Paediatr 1996;129:159-162.

    Google Scholar 

  66. Franceschini P, Testa A, Bogetti G, Girardo E, Guala A, Lopez-Bell G, Buzio G, Ferrario E, Piccato E. Kenny-Caffey syndrome in two sibs born to consanguineous parents: Evidence for an autosomal recessive variant. Am J Med Genet 1992;42:112-116.

    Google Scholar 

  67. Boynton JR, Pheasant TR, Johnson BL, Levin DB, Streeten BW. Ocular findings in Kenny's syndrome. Arch Ophthalmol 1979;97:896-900.

    Google Scholar 

  68. Sanjad SA, Sakati NA, Abu-Osba YK, Kaddoura R, Milner RD. A new syndrome of congenital hypoparathyroidism, severe growth failure, and dysmorphic features. Arch Dis Childhood 1991;66:193-196.

    Google Scholar 

  69. Parvari R, Hershkovitz E, Kanis A, Gorodischer R, Shalitin S, Sheffield VC, Carmi R. Homozygosity and linkage-disequilibrium mapping of the syndrome of congenital hypoparathyroidism, growth and mental retardation, and dysmorphism to a 1cM interval on chromosome 1q42-43. Am J Human Genet 1998;63:163-169.

    Google Scholar 

  70. Pavari R, Hershkovitz E, Grossman N. Gorodischer R, Loeys B, Zecic A, Mortier G, Gregory S, Sharony R, Kambouris M, Sakati N, Meyer BF, Al Aqueel AI, Humaidan AK, Al Zanhrani F, Al Swaid A, Al Othman J, Diaz GA, Weiner R, Khan KT, Gordon R, Gelb BD; HRD/Autosomal Recessive Kenny-Caffey Syndrome Consortium. Mutation of TBCE causes hypoparathyroidism-retardation-dysmorphism and autosomal recessive Kenny-Caffey syndrome. Nature Genetics 2002;32:448-452.

    Google Scholar 

  71. Parkinson DB, Shaw NJ, Himsworth RL, Thakker RV. Parathyroid hormone gene analysis in autosomal hypoparathyroidism using an intragenic tetranucleotide (AAAT)n polymorphism. Hum Genet 1993;91:281-284.

    Google Scholar 

  72. Barakat AY, D'Albora JB, Martin MM, Jose PA. Familial nephrosis, nerve deafness, and hypoparathyroidism. J Pediatr 1977;91:61-64.

    Google Scholar 

  73. Dahlberg PJ, Borer WZ, Newcomer KL, Yutuc WR. Autosomal or X-linked recessive syndrome of congenital lymphedema, hypoparathyroidism, nephropathy, prolapsing mitral valve, and brachytelephalangy. Am J Med Genet 1983;16:99-104.

    Google Scholar 

  74. Blomstrand S, Claësson I, Säve-Söderbergh J: A case of lethal congenital dwarfism with accelerated skeletal maturation. Pediatr Radiol 1985;15:141-143.

    Google Scholar 

  75. Jobert AS, Zhang P, Couvineau A, Bonaventure J, Roume J, Le Merrer M, Silve C. Absence of functional receptors parathyroid hormones and parathyroid hormone-related peptide in Blomstrand chondro-dysplasia. J Clin Invest 1998;102:34-40.

    Google Scholar 

  76. Zhang P, Jobert AS, Couvineau A, Silve C. A homozygous inactivating mutation in the parathyroid hormone/parathyroid hormone-related peptide receptor causing Blomstrand chondrodysplasia. J Clin Endocrinol Metab 1998;83:3373-3376.

    Google Scholar 

  77. Karaplis AC, He B, Nguyen MT, Young ID, Semeraro D, Ozawa H, Amizuka N. Inactivating mutation in the human parathyroid hormone receptor type 1 gene in Blomstrand Chondrodysplasia. Endo-crinology 1998;139:5255-5258.

    Google Scholar 

  78. Pollak MR, Brown EM, Estep HL, McLaine PN, Kifor O, Park J, Hebert SC, Seidman CE, Seidman JG. Autosomal dominant hypocalcaemia caused by a calcium-sensing receptor gene mutation. Nature Genet 1994;8:303-307.

    Google Scholar 

  79. Pearce SH, Williamson C, Kifor O, Bai M, Coulthard MG, Davies M, Lewis-Barned N, McCredie D, Powell H, Kendall-Taylor P, Brown EM, Thakker RV. A familial syndrome of hypocalcaemia with hypocalciuria due to mutations in the calcium-sensing receptor gene. N Engl J Med 1996;335:115-1122.

    Google Scholar 

  80. Yu S, Yu D, Hainline BE, Brener JL, Wilson KA, Wilson LC, ude-Luttikhuis ME, Trembath RC, Weinstein LS. A deletion hot-spot in exon 7 of the Gs α gene (GNAS1) in patients with Albright hereditary osteodystrphy. Hum Mol Genet 1995;4:2001-2002.

    Google Scholar 

  81. van Dop C. Pseudohypoparathyroidism: Clinical and molecular aspects. Seminars in Nephrology 1989;9:168-178.

    Google Scholar 

  82. Weinstein LS. Albright hereditary osteodystrophy, pseudohypoparathyroidism, and Gs deficiency. In: Spiegel AM ed. G Proteins, Receptors, and Disease. Totowa, New Jersey: Humana Press, 1998:23-56.

    Google Scholar 

  83. Weinstein LS, Gejman PV, Friedman E, Kadowaki T, Collins RM, Gershon ES, Spiegel AM. Mutations of the Gs α-subunit gene in Albright hereditary osteo-dystrophy detected by denaturing gradient gel electro-phoresis. Proc Natl Acad Sci USA 1990;87:8287-8290.

    Google Scholar 

  84. Davies AJ, Hughes HE. Imprinting in Albright's hereditary osteodystrophy. J Med Genet 1993;30:101-103.

    Google Scholar 

  85. Yu S, Yu D, Lee E, Eckhaus M, Lee R, Corria Z, Accili D, Westphal H, Weinstein LS. Variable and tissue-specific hormone resistance in heterotrimeric Gs protein a-subunit (Gs α) knockout mice is due to tissue-specific imprinting of the Gs α. Proc Natl Acad Sci USA 1998;95:8715-8720.

    Google Scholar 

  86. Hayward BE, Moran V, Strain L, Bonthron DT. Bidirectional imprinting of a single gene: GNAS1 encodes maternally, paternally, and biallelically derived proteins. Proc Natl Acad Sci USA 1998;95:15475-15480.

    Google Scholar 

  87. Kehlenbach RH, Matthey J, Huttner WB: XLαs is a new type of G protein. Nature 1994;372:804-809.

    Google Scholar 

  88. Murray TM, Rao LG, Wong MM, Waddell JP, McBroom R, Tam CS, Rosen F, Levine MA. Pseudohypoparathyroidism with osteitis fibrosa cystica: Direct demon-stration of skeletal responsiveness to parathyroid hormone in cells cultured from bone. J Bone Miner Res 1993;8:83-91.

    Google Scholar 

  89. Farfel Z. Pseudohypohyperparathyroidism-pseudohypoparathyroidism type Ib. J Bone Miner Res 1999;14:1016.

    Google Scholar 

  90. Schipani E, Weinstein LS, Bergwitz C, Iida-Klein A, Kong XF, Stuhrmann M, Kruse K, Whyte MP, Murray T, Schmidtke J, Juppner H. Pseudohypoparathyroidism type Ib is not caused by mutations in the coding exons of the human parathyroid hormone (PTH)/PTH-related peptide receptor gene. J Clin Endocrinol Metab 1995;80:1611-1621.

    Google Scholar 

  91. Bettoun JD, Minagawa M, Kwan MY, Lee HS, Yasuda T, Hendy GN, Goltzman D, White JH. Cloning and characterization of the promoter regions of the human para-thyroid hormone (PTH)/PTH-related peptide receptor gene: Analysis of deoxyribo-nucleic acid from normal subjects and patients with pseudohypoparathyroidism type Ib. J Clin Endocrinol Metab 1997;82:1031-1040.

    Google Scholar 

  92. Suarez F, Lebrun JJ, Lecossier D, Escoubet B, Coureau C, Silve C. Expression and modulation of the parathyroid hormone (PTH)/PTH-related peptide receptor messenger ribonucleic acid in skin fibroblasts from patients with type Ib pseudohypoparathyroidism. J Clin Endocrinol Metab 1995;80:965-970.

    Google Scholar 

  93. Fukumoto S, Suzawa M, Takeuchi Y, Kodama Y, Nakayama K, Ogata E, Matsumoto T, Fujita T. Absence of mutations in parathyroid hormone (PTH)/PTH-related protein receptor complementary deoxyribonucleic acid in patients with pseudohypoparathyroidism type Ib. J Clin Endocrinol Metab 1996;81:2554-2558.

    Google Scholar 

  94. Jüppner H, Schipani E, Bastepe M, Cole DE, Lawson ML, Mannstadt M, Hendy GN, Plotkin H, Koshiyama H, Koh T, Crawford JD, Olsen BR, Vikkula M. The gene responsible for pseudohypopara-thyroidism type Ib is paternally imprinted and maps in four unrelated kindreds to chromosome 20q13.3. Proc Natl Acad Sci USA 1998;95:11798-11803.

    Google Scholar 

  95. Thakker RV. Parathyroid disorders. Molecular genetics and physiology. In: Morris PJ and Wood WC, eds. Oxford Textbook of Surgery, Oxford, UK: Oxford University Press, 2000:1121-1129.

    Google Scholar 

Download references

Author information

Authors and Affiliations

  1. May Professor of Medicine, Nuffield Department of Clinical Medicine, University of Oxford, Botnar Research Centre, Nuffield Orthopaedic Centre, Headington, Oxford, OX3 7LD, UK

    R.V. Thakker

Authors
  1. R.V. Thakker
    View author publications

    You can also search for this author in PubMed Google Scholar

Rights and permissions

Reprints and permissions

About this article

Cite this article

Thakker, R. Genetics of Endocrine and Metabolic Disorders: Parathyroid. Rev Endocr Metab Disord 5, 37–51 (2004). https://doi.org/10.1023/B:REMD.0000016123.21743.fe

Download citation

  • Issue Date:

  • DOI: https://doi.org/10.1023/B:REMD.0000016123.21743.fe

Search

Navigation