A form of Jansen's metaphyseal chondrodysplasia with limited metabolic and skeletal abnormalities is caused by a novel activating parathyroid hormone (PTH)/PTH-related peptide receptor mutation

Journal of Clinical Endocrinology and Metabolism

Volumn 89, Issue 7, 2004, Pages 3595-3600

  Bastepe, Murat ^a   Raas Rothschild, Annick ^b   Silver, Justin ^b   Weissman, Irit ^c   Wientroub, Shlomo ^d   Jüppner, Harald ^a   Gillis, David ^b  

^a MASSACHUSETTS GENERAL HOSPITAL   (United States)

^b HADASSAH HEBREW UNIVERSITY MEDICAL CENTER   (Israel)

^c WESTERN GALILEE HOSPITAL   (Israel)

^d TEL AVIV UNIVERSITY   (Israel)

Author keywords

[No Author keywords available]

Indexed keywords

PARATHYROID HORMONE;

ARTICLE; BONE DISEASE; CALCIUM EXCRETION; CASE REPORT; CHILD; CHONDRODYSPLASIA; GENE ACTIVATION; GENE IDENTIFICATION; GENE MUTATION; HUMAN; MALE; METABOLIC DISORDER; PRIORITY JOURNAL;

ADULT; AMINO ACID SUBSTITUTION; ANIMALS; ARGININE; BODY HEIGHT; BONE AND BONES; CALCIUM; CERCOPITHECUS AETHIOPS; CHILD; CHILD, PRESCHOOL; COS CELLS; CYCLIC AMP; HUMANS; KIDNEY CALCULI; MALE; MUTATION; OSTEOCHONDRODYSPLASIAS; PARATHYROID HORMONE; PEDIGREE; RECEPTOR, PARATHYROID HORMONE, TYPE 1; THREONINE;

EID: 3242718379     PISSN: 0021972X     EISSN: None     Source Type: Journal    
DOI: 10.1210/jc.2004-0036     Document Type: Article

References (20)

1. Jüppner H, Gardella T, Brown E, Kronenberg H, Potts Jr J 2000 Parathyroid hormone and parathyroid hormone-related peptide in the regulation of calcium homeostasis and bone development. In: DeGroot L, Jameson J, eds. Endocrinology. Philadelphia: W.B. Saunders Company; 969-998
2. Gardella TJ, Jüppner H, Bringhurst FR, Potts Jr JT 2002 Receptors for parathyroid hormone (PTH) and PTH-related peptide. In: Bilezikian J, Raisz L, Rodan G, eds. Principles of bone biology. San Diego: Academic Press; 389-405
3. Chorev M, Rosenblatt M 2002 Parathyroid hormone-receptor interactions. In: Bilezikian JP, Raisz LG, Rodan GA, eds. Principles of bone biology. San Diego: Academic Press; 423-461
4. Suda T, Takahashi N, Udagawa N, Jimi E, Gillespie MT, Martin TJ 1999 Modulation of osteoclast differentiation and function by the new members of the tumor necrosis factor receptor and ligand families. Endocr Rev 20:345-357
5. Lanske B, Kronenberg H 1998 Parathyroid hormone-related peptide (PTHrP) and parathyroid hormone (PTH)/PTHrP receptor. Crit Rev Eukaryot Gene Expr 8:297-320
6. Karaplis AC, Luz A, Glowacki J, Bronson R, Tybulewicz V, Kronenberg HM, Mulligan RC 1994 Lethal skeletal dysplasia from targeted disruption of the parathyroid hormone-related peptide gene. Genes Dev 8:277-289
7. Lanske B, Karaplis AC, Luz A, Vortkamp A, Pirro A, Karperien M, Defize LHK, Ho C, Mulligan RC, Abou-Samra AB, Jüppner H, Segre GV, Kronenberg HM 1996 PTH/PTHrP receptor in early development and Indian hedgehog-regulated bone growth. Science 273:663-666
8. Jüppner H, Schipani E, Silve C 2002 Jansen's metaphyseal chondrodysplasia and Blomstrand's lethal chondrodysplasia: two genetic disorders caused by PTH/PTHrP receptor mutations. In: Bilezikian J, Raisz L, Rodan G, eds. Principles of bone biology. San Diego: Academic Press; pp 1117-1135
9. Hopyan S, Gokgoz N, Poon R, Gensure R, Yu C, Cole W, Bell R, Jüppner H, Andrulis I, Wunder J, Alman B 2002 A mutant type I PTH/PTHrP receptor in enchondromatosis. Nat Genet 30:306-310
10. Schipani E, Lanske B, Hunzelman J, Kovacs CS, Lee K, Pino A, Kronenberg HM, Jüppner H 1997 Targeted expression of constitutively active PTH/PTHrP receptors delays endochondral bone formation and rescues PTHrP-less mice. Proc Natl Acad Sci USA 94:13689-13694
11. Schipani E, Kruse K, Jüppner H 1995 A constitutively active mutant PTH-PTHrP receptor in Jansen-type metaphyseal chondrodysplasia. Science 268:98-100
12. Schipani E, Langman CB, Parfitt AM, Jensen GS, Kikuchi S, Kooh SW, Cole WG, Jüppner H 1996 Constitutively activated receptors for parathyroid hormone and parathyroid hormone-related peptide in Jansen's metaphyseal chondrodysplasia. N Engl J Med 335:708-714
13. Schipani E, Langman CB, Hunzelman J, LeMerrer M, Loke KY, Dillon MJ, Silve C, Jüppner H 1999 A novel PTH/PTHrP receptor mutation in Jansen's metaphyseal chondrodysplasia. J Clin Endocrinol Metab 84:3052-3057
14. Schipani B, Jensen GS, Pincus J, Nissenson RA, Gardella TJ, Jüppner H 1997 Constitutive activation of the cAMP signaling pathway by parathyroid hormone (PTH)/PTH-related peptide (PTHrP) receptors mutated at the two loci for Jansen's metaphyseal chondrodysplasia. Mol Endocrinol 11:851-858
15. Schipani E, Weinstein LS, Bergwitz C, Iida-Klein A, Kong XF, Stuhrmann M, Kruse K, Whyte MP, Murray T, Schmidtke J, van Dop C, Brickman AS, Crawford JD, Potts Jr JT, Kronenberg HM, Abou-Samra AB, Segre GV, Jüppner H 1995 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 80:1611-1621
16. Liu G, Duranteau L, Carel J, Monroe J, Doyle D, Shenker A 1999 Leydig-cell tumors caused by an activating mutation of the gene encoding the luteinizing hormone receptor. N Engl J Med 341:1731-1736
17. Spiegel AM 1998 Introduction to G-protein-coupled signal transduction and human disease. In: Spiegel AM, ed. G proteins, receptors, and disease. Totowa, NJ: Humana Press; 1-21
18. Chen Q, Kaji H, Iu M, Nomura R, Sowa H, Yamauchi M, Tsukamoto T, Sugimoto T, Chihara K 2003 Effects of an excess and a deficiency of endogenous parathyroid hormone on volumetric bone mineral density and bone geometry determined by peripheral quantitative computed tomography in female subjects. J Clin Endocrinol Metab 88:4655-4658
19. Calvi L, Sims N, Hunzelman J, Knight M, Giovannetti A, Saxton J, Kronenberg HM, Baron R, Schipani E 2001 Activation of the PTH/PTHrP receptor in osteoblastic cells has differential effects on cortical and trabecular bone. J Clin Invest 107:277-286
20. Lenz WD 1969 Skeletal dysplasias. The First Conference on the Clinical Delineation of Birth Defects. Baltimore: The Johns Hopkins Hospital; 71-72