Sporadic hypoparathyroidism caused by de novo gain-of-function mutations of the Ca2+-sensing receptor

Journal of Clinical Endocrinology and Metabolism

Volumn 82, Issue 8, 1997, Pages 2710-2715

  De Luca, Francesco ^a,c   Ray, Kausik ^b   Mancilla, Edna E ^a   Fan, Gao Feng ^b   Winer, Karen K ^a   Gore, Pankaj ^d   Spiegel, Allen M ^b   Baron, Jeffrey ^a  

^a EUNICE KENNEDY SHRIVER NATIONAL INSTITUTE OF CHILD HEALTH AND HUMAN DEVELOPMENT   (United States)

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

^c NATIONAL INSTITUTES OF HEALTH   (United States)

^d NONE

Author keywords

[No Author keywords available]

Indexed keywords

GUANINE NUCLEOTIDE BINDING PROTEIN; PARATHYROID HORMONE;

ADULT; AMINO TERMINAL SEQUENCE; ARTICLE; CALCIUM ABSORPTION; CALCIUM BLOOD LEVEL; CASE REPORT; ENZYME ACTIVITY; ENZYME LINKED IMMUNOSORBENT ASSAY; FEMALE; GENE AMPLIFICATION; GENE EXPRESSION; GENE MUTATION; HUMAN; HYPERCALCIURIA; HYPOPARATHYROIDISM; HYPOTHESIS; LIGAND BINDING; MISSENSE MUTATION; PHENOTYPE; PRIORITY JOURNAL; SIGNAL TRANSDUCTION; SITE DIRECTED MUTAGENESIS;

ADULT; AUTOANALYSIS; BLOTTING, WESTERN; CELL MEMBRANE; FEMALE; GENE EXPRESSION; HUMANS; HYPOPARATHYROIDISM; MUTATION; POLYMERASE CHAIN REACTION; RECEPTORS, CALCIUM-SENSING; RECEPTORS, CELL SURFACE; SEQUENCE ANALYSIS, DNA; TRANSFECTION;

EID: 0030838449     PISSN: 0021972X     EISSN: None     Source Type: Journal    
DOI: 10.1210/jc.82.8.2710     Document Type: Article

References (31)

1. 2+ -sensing receptor from bovine parathyroid. Nature. 366:575-580.
2. Riccardi D, Park J, Lee WS, et al. 1995 Cloning and functional expression of a rat kidney extracellular calcium-sensing receptor. Proc Natl Acad Sci USA. 92:131-135.
3. 2+ -sensing receptor cDNA from human kidney. Biochem Biophys Res Commun. 214:524-529.
4. Garrett JE, Tamir H, Kifor O, et al. 1995 Calcitonin-secreting cells of the thyroid gland express an extracellular calcium-sensing receptor gene. Endocrinology. 136:5202-5211.
5. Ruat M, Molliver ME, Snowman AM, Snyder SH. 1995 Calcium sensing receptor: molecular cloning in rat and localization to nerve terminals. Proc Natl Acad Sci USA. 92:3161-3165.
6. Lundgren S, Hjalm G, Hellman P, et al. 1994 A protein involved in calcium sensing of the human parathyroid and placental cytotrophoblast cells belongs to the LDL-receptor protein superfamily. Exp Cell Res. 212:344-350.
7. 2+ sensing. J Clin Invest. 96:1582-1590.
8. Finegold DN, Armitage MM, Galiani M, et al. 1994 Preliminary localization of a gene for autosomal dominant hypoparathyroidism to chromosome 3q13. Pediatr Res. 36:414-417.
9. 2+ -sensing receptor gene cause familial hypocalciuric hypercalcemia and neonatal severe hyperparathyroidism. Cell. 75:1297-1303.
10. Ho C, Conner DA, Pollak MR, et al. 1995 A mouse model of human hypocalciuric hypercalcemia and neonatal severe hyperparathyroidism. Nat Genet. 11:389-394.
11. 2+ -sensing receptor gene cause autosomal dominant and sporadic hypoparathyroidism. Hum Mol Genet. 5:601-606.
12. 2+ -sensing receptor gene mutation. Nat Genet. 8:303-307.
13. 2+ -sensing receptor gene (PCAR1) mutation T151 M in isolated autosomal dominant hypoparathyroidism. Hum Genet. 98:129-133.
14. Pearce SHS, Williamson C, Kifor O, et al. 1996 A familial syndrome of hypocalcemia with hypercalciuria due to mutations in the calcium-sensing receptor. N Engl J Med. 335:1115-11225.
15. 2+ -sensing receptor gene causes familial autosomal dominant hypoparathyroidism [Abstract]. Am J Hum Genet. 55(Suppl):A17.
16. Pearce SHS, Bai M, Quinn SJ, Kifor O, Brown EM, Thakker RV. 1996 Functional characterization of calcium-sensing receptor mutations expressed in human embryonic kidney cells. J Clin Invest. 98:1860-1866.
17. 2+ -sensing receptor. J Biol Chem. 271:19537-19545.
18. Fitzpatrick LA, Arnold A. 1995 Hypoparathyroidism. In: DeGroot LJ, Besser M, Burger HG, et al. Endocrinology, 3rd ed. Philadelphia: Saunders; 1123-1135.
19. Smith LM, Sanders JZ, Kaiser RJ, et al. 1986 Fluorescence detection in automated DNA sequence analysis. Nature. 321:674-679.
20. Berridge MJ, Dawson RM, Downes CP, Heslop JP, Irvine RF. 1983 Changes in the levels of inositol phosphates after agonist-dependent hydrolysis of membrane phosphoinositides. Biochem J. 212:473-482.
21. Garrett JE, Capuano IV, Hammerland LG, et al. 1995 Molecular cloning and functional expression of human parathyroid calcium receptor cDNAs. J Biol Chem. 270:12919-12925.
22. Wilkie PJ, Krizman DB, Weber IL. 1992 Linkage map of human chromosome 9 microsatellite polymorphisms. Genomics. 12:607-609.
23. Udalova IA, Nedospasov SA, Webb GC, Chaplin DD, Turetskaya RL. 1993 Highly informative typing of the human TNF locus using adjacent polymorphic markers. Genomics. 16:180-186.
24. Hammond HA, Jin L, Zhong Y, Caskey CT, Chakraborty R. 1994 Evaluation of 13 short tandem repeat loci for use in personal identification applications. Am J Hum Genet. 55:175-189.
25. Porter RH, Cox BG, Heaney D, Hostetter TH, Stinebaugh BJ, Suki WN. 1978 Treatment of hypoparathyroid patients with chlorthalidone. N Engl J Med. 298:577-581.
26. 3). Action of hydrochlorothiazide. Am J Dis Child. 140:139-142.
27. Winer KK, Yanovski JA, Cutler Jr GB. 1996 Synthetic human parathyroid hormone. 1-34 vs calcitriol and calcium in the treatment of hypoparathyroidism. Results of a short-term randomized crossover trial. JAMA. 276:631-636.
28. Peacock M, Robertson WG, Nordin BEC. 1969 Relation between serum and urinary calcium with particular reference to parathyroid activity. Lancet. 7591:384-386.
29. Samama P, Cotecchia S, Costa T. 26 Lefkowitz RJ. 1993 A mutation-induced activated state of the beta 2-adrenergic receptor. Extending the ternary complex model. J Biol Chem. 268:4625-4636.
30. Parent J, Le Gouill C, de Brum-Fernandes AJ, Rola-Pleszczynski M, Stankova J. 1996 Mutations of two adjacent amino acids generate inactive and constitutively active forms of the human platelet-activating factor receptor. J Biol Chem. 271:7949-7955.
31. Lefkowitz RJ, Cotecchia S, Samama P, Costa T. 1993 Constitutive activity of receptors coupled to guanine nucleotide regulatory proteins. Trends Pharmacol Sci. 14:303-307.