Hereditary vitamin D resistant rickets caused by a novel mutation in the vitamin D receptor that results in decreased affinity for hormone and cellular hyporesponsiveness

Journal of Clinical Investigation

Volumn 99, Issue 2, 1997, Pages 297-304

  Malloy, Peter J ^a   Eccleshall, T Ross ^a   Gross, Coleman ^a   Van Maldergem, Lionel ^b   Bouillon, Roger ^c   Feldman, David ^a,d  

^a STANFORD UNIVERSITY   (United States)

^b INSTITUTE OF PATHOLOGY AND GENETICS   (Belgium)

^c UNIVERSITY OF LEUVEN   (Belgium)

^d STANFORD UNIVERSITY SCHOOL OF MEDICINE   (United States)

Author keywords

1,25 dihydroxyvitamin D; calcitriol; receptors; steroid; vitamin D dependent rickets, type II

Indexed keywords

CALCITRIOL RECEPTOR; CALCIUM; OXYGENASE; VITAMIN D;

ARTICLE; BINDING AFFINITY; CALCIUM BLOOD LEVEL; CASE REPORT; CELL ACTIVITY; CHILD; ENZYME ACTIVITY; FIBROBLAST; GENE EXPRESSION; GENE MUTATION; HORMONE RESPONSE; HUMAN; HUMAN CELL; HUMAN TISSUE; LIPODYSTROPHY; MULTIGENE FAMILY; POINT MUTATION; PRIORITY JOURNAL; RICKETS; SEQUENTIAL ANALYSIS; TARGET ORGAN; TRANSACTIVATION;

EID: 0031038088     PISSN: 00219738     EISSN: None     Source Type: Journal    
DOI: 10.1172/JCI119158     Document Type: Article

References (53)

1. Feldman, D., and P.J. Malloy. 1990. Hereditary 1,25-dihydroxyvitamin D resistant rickets: molecular basis and implications for the role of 1,25(OH)2D3 in normal physiology. Mol. Cell. Endocrinol. 72:C57-62.
2. Hughes, M.R., P.J. Malloy, B.W. O'Malley, J.W. Pike, and D. Feldman. 1991. Genetic defects of the 1,25-dihydroxyvitamin D3 receptor. J. Recept. Res. 11:699-716.
3. Brooks, M.H., N.H. Bell, L. Love, P.H. Stern, E. Orfei, S.F. Queener, A.J. Hamstra, and H.F. DeLuca. 1978. Vitamin D-dependent rickets type II: resistance of target organs to 1,25-dihydroxyvitamin D. N. Engl. J. Med. 298:996-999.
4. Rosen, J.F., A.R. Fleischman, L. Finberg, A. Hamstra, and H.F. Deluca. 1979. Rickets with alopecia: an inborn error of vitamin D metabolism. J. Pediatr. 94:729-735.
5. Beer, S., M. Tieder, D. Kohelet, O.A. Liberman, E. Vure, G. Bar-Joseph, D. Gabizon, Z.U. Borochowitz, W. Varon, and D. Modai. 1981. Vitamin D resistant rickets with alopecia: a form of end organ resistance to 1,25-dihydroxyvitamin D. Clin. Endocrinol. 14:395-402.
6. Feldman, D., T. Chen, C. Cone, M. Hirst, S. Shani, A. Benderli, and Z. Hochberg. 1982. Vitamin D resistant rickets with alopecia: cultured skin fibroblasts exhibit defective cytoplasmic receptors and unresponsiveness to 1,25(OH)2D3. J. Clin. Endocrinol. Metab. 55:1020-1022.
7. Clemens, T.L., J.S. Adams, N. Horiuchi, B.A. Gilchrest, H. Cho, Y. Tsuchiya, N. Matsuo, T. Suda, and M.F. Holick. 1983. Interaction of 1,25-dihydroxyvitamin-D3 with keratinocytes and fibroblasts from skin of normal subjects and a subject with vitamin-D-dependent rickets, type II: a model for study of the mode of action of 1,25-dihydroxyvitamin D3. J. Clin. Endocrinol. Metab. 56:824-830.
8. Griffin, J.E., and J.E. Zerwekh. 1983. Impaired stimulation of 25-hydroxyvitamin D-24-hydroxylase in fibroblasts from a patient with vitamin D-dependent rickets, type II. A form of receptor positive resistance to 1,25-dihydroxyvitamin D3. J Clin. Invest. 72:1190-1199.
9. Chen, T.L., M.A. Hirst, C.M. Cone, Z. Hochberg, H.-U. Tietze, and D. Feldman. 1984. 1,25-dihydroxyvitamin D resistance, rickets and alopecia: analysis of receptors and bioresponse in cultured fibroblasts from patients and parents. J. Clin. Endocrinol. Metab. 59:383-388.
10. Hochberg, Z., A. Benderli, J. Levy, P. Vardi, Y. Weisman, T. Chen, and D Feldman. 1984. 1,25-dihydroxyvitamin D resistance, rickets and alopecia. Am. J. Med 77:805-811.
11. Gamblin, G.T., U.A. Liberman, C. Eil, R.W.J. Downs, D.A. Degrange, and S.J. Marx. 1985. Vitamin D dependent rickets type II: defective induction of 25-hydroxyvitamin D3-24-hydroxylase by 1,25-dihydroxyvitamin D3 in cultured skin fibroblasts. J. Clin. Invest. 75:954-960.
12. Hirst, M., H. Hochman, and D. Feldman. 1985. Vitamin D resistance and alopecia: a kindred with normal 1,25-dihydroxyvitamin D bindin, but decreased receptor affinity for deoxyribonucleic acid. J. Clin. Endocrinol. Metab. 60:490-495.
13. Hochberg, Z., A. Gilhar, S. Haim, R. Friedman-Birnbaum, J. Levy, and A. Benderly. 1985. Calcitriol-resistant rickets with alopecia. Arch. Dermatol. 121:646-647.
14. Liberman, U.A., C. Eil, and S.J. Marx. 1986. Receptor-positive hereditary resistance to 1,25-dihydroxyvitamin D: chromatography of receptor complexes on deoxyribonucleic acid-cellulose shows two classes of mutation. J. Clin. Endocrinol. Metab. 62:122-126.
15. Laufer, D., A. Benderly, and Z. Hochberg. 1987. Dental pathology in calcitirol resistant rickets. J Oral Med. 42: 272-275.
16. Kikuchi, K., T. Okamoto, M. Nishino, E. Takeda, Y. Kuroda, and M. Miyao. 1988. Vitamin D-dependent rickets type II: report of three cases. ASDC J. Dent. Child. 55:465-468.
17. Malloy, P.J., Z. Hochberg, J.W. Pike, and D. Feldman. 1989. Abnormal binding of vitamin D receptors to deoxyribonucleic acid in a kindred with vitamin D-dependent rickets, type II. J. Clin. Endocrinol. Metab. 68:263-269.
18. Koeffler, H.P., J.E. Bishop, H. Reichel, F. Singer, A. Nagler, A. Tobler, M. Walka, and A. W. Norman. 1990. Lymphocyte cell lines from vitamin D-dependent rickets type II show functional defects in the 1α,25-dihydroxyvitamin D3 receptor. Mol. Cell. Endocrinol. 70:1-11.
19. Baker, A.R., D.P. McDonnell, M. Hughes, T.M. Crisp, D.J. Mangelsdorf, M.R. Haussler, J.W. Pike, J. Shine, and B.W. O'Malley. 1988. Cloning and expression of full-length cDNA encoding human vitamin D receptor. Proc. Natl. Acad. Sci. USA. 85:3294-3298.
20. Hughes, M.R., P.J. Malloy, D.G. Kieback, R.A. Kesterson, J.W. Pike, D. Feldman, and B.W. O'Malley. 1988. Point mutations in the human vitamin D receptor gene associated with hypocalcemic rickets. Science (Wash. DC). 242: 1702-1705.
21. Ritchie, H.H., M.R. Hughes, E.T. Thompson, P.J. Malloy, Z. Hochberg, D. Feldman, J.W. Pike, and B.W. O'Malley. 1989. An ochre mutation in the vitamin D receptor gene causes hereditary 1,25-dihdroxyvitamin D3-resistant rickets in three families. Proc. Natl. Acad. Sci. USA. 86:9783-9787.
22. Malloy, P.J., Z. Hochberg, D. Tiosano, J.W. Pike, M.R. Hughes, and D. Feldman. 1990. The molecular basis of hereditary 1,25-dihydroxyvitamin D3 resistant rickets in seven related families. J. Clin. Invest. 86:2071-2079.
23. Sone, T., S.J. Marx, U.A. Liberman, and J.W. Pike. 1990. A unique point mutation in the human vitamin D receptor chromosomal gene confers hereditary resistance to 1,25-dihydroxyvitamin D3. Mol. Endocrinol. 4:623-631.
24. Rut, A.R., M. Hewison, P. Rowe, M. Hughes, D. Grant, and J.L.H. O'Riordan. 1991. A novel mutation in the steroid binding region of the vitamin D receptor (VDR) gene in hereditary vitamin D resistant rickets (HVDRR). In Vitamin D: gene regulation, structure-function analysis, and clinical application. A.W. Norman, R. Bouillon, and M. Thomasset, editors. Walter de Gruyter, New York. 94-95.
25. Saijo, T., M. Ito, E. Takeda, A.H. Huq, E. Naito, I. Yokota, T. Sone, J.W. Pike, and Y. Kuroda. 1991. A unique mutation in the vitamin D receptor gene in three Japanese patients with vitamin D-dependent rickets type II: utility of single-strand conformation polymorphism analysis for heterozygous carrier detection. Am. J. Hum. Genet. 49:668-673.
26. Thompson, E., K. Kristjansson, and M. Hughes. 1991. Molecular scanning methods for mutation detection: application to the 1,25-dihydroxyvitamin D receptor. Eighth workshop on vitamin D. 8. (Abstr.). p. 6.
27. Hewison, M., A.R. Rut, K. Kristjansson, R.E. Walker, M.J. Dillon, M.R. Hughes, and J.L. O'Riordan. 1993. Tissue resistance to 1,25-dihydroxyvitamin D without a mutation of the vitamin D receptor gene. Clin. Endocrinol. 39:663-670.
28. Kristjansson, K., A.R. Rut, M. Hewison, J.L. O'Riordan, and M.R. Hughes. 1993. Two mutations in the hormone binding domain of the vitamin D receptor cause tissue resistance to 1,25 dihydroxyvitamin D3. J. Clin. Invest. 92: 12-16.
29. Yagi, H., K. Ozono, H. Miyake, K. Nagashima, T. Kuroume, and J.W. Pike. 1993. A new point mutation in the deoxyribonucleic acid-binding domain of the vitamin D receptor in a kindred with hereditary 1,25-dihydroxyvitamin D-resistant rickets. J. Clin. Endocrinol. Metab. 76:509-512.
30. Wiese, R.J., H. Goto, J.M. Prahl, S.J. Marx, M. Thomas, A. al-Aqeel, and H.F. DeLuca. 1993. Vitamin D-dependency rickets type II: truncated vitamin D receptor in three kindreds. Mol. Cell. Endocrinol. 90:197-201.
31. Malloy, P.J., Y. Weisman, and D. Feldman. 1994. Hereditary 1α,25-dihydroxyvitamin D-resistant rickets resulting from a mutation in the vitamin D receptor deoxyribonucleic acid-binding domain. J. Clin. Endocrinol. Metab. 78:313-316.
32. Lin, N.U.-T., P.J. Malloy, N. Sakati, A. Al-Ashwal, and D. Feldman. 1996. A novel mutation in the deoxyribonucleic acid-binding domain of the vitamin D receptor gene causes hereditary 1,25-dihydroxyvitamin D resistant rickets. J. Clin. Endocrinol. Metab. 81:2564-2569.
33. Evans, R.M. 1988. The steroid and thyroid hormone receptor superfamily. Science (Wash. DC). 240:889-895.
34. Mangelsdorf, D.J., and R.M. Evans. 1995. The RXR heterodimers and orphan receptors. Cell. 83:841-850.
35. Forman, B.M., and H.H. Samuels. 1990. Interactions among a subfamily of nuclear hormone receptors: the regulatory zipper model. Mol. Endocrinol. 4: 1293-1301.
36. Sone, T., R.A., Scott, M.R. Hughes, P.J. Malloy, D. Feldman, B.W. O'Malley, and J.W. Pike. 1989. Mutant vitamin D receptors which confer hereditary resistance to 1,25-dihydroxyvitamin D3 in humans are transcriptionally inactive in vitro. J. Biol. Chem. 264:20230-20234.
37. Van Maldergem, L., A. Bachy, D. Feldman, R. Bouillon, J. Maassen, M. Dreyer, R. Rey, C. Holm, and Y. Gillerot. 1996. Syndrome of lipoatrophic diabetes, vitamin D resistant rickets, and persistent müllerian ducts in a Turkish boy born to consanguineous parents. Am. J. Med. Genet. 64:506-513.
38. Bradford, M.M. 1976. A rapid and sensitive method for the quantitation of microgram quantities of protein utilizing the principle of protein dye binding. Anal. Biochem. 72:248-254.
39. Skowronski, R.J., D.M. Peehl, and D. Feldman. 1993. Vitamin D and prostate cancer: 1,25 Dihydroxyvitamin D3 receptors and actions in human prostate cancer cell lines. Endocrinology. 132:1952-1960.
40. Malloy, P.J., X. Zhao, N.D. Madani, and D. Feldman. 1993. Cloning and expression of the gene from Candida albicans that encodes a high-affinity corticosteroid-binding protein. Proc. Natl. Acad. Sci. USA. 90:1902-1906.
41. Hijiya, N., M. Setoguchi, K. Matsuura, Y. Higuchi, S. Akizuki, and S. Yamamato. 1994. Cloning and characterization of the human osteopontin gene and its promoter. Biochem J. 303:255-262.
42. Ohyama, Y., M. Noshiro, and K. Okuda. 1991. Cloning and expression of cDNA encoding 25-hydroxyvitamin D3 24-hydroxylase. FEBS Lett. 278:195-198.
43. Marx, S.J., M.M. Bliziotes, and M. Nanes. 1986. Analysis of the relation between alopecia and resistance to 1,25-dihydroxyvitamin D. Clin. Endocrinol 25:373-381.
44. Takeda, E., Y. Kuroda, T. Saijo, E. Naito, H. Kobashi, I. Yokota, and M. Miyao. 1987. 1 alpha-hydroxyvitamin D3 treatment of three patients with 1,25-dihydroxyvitamin D-receptor-defect rickets and alopecia. Pediatrics. 80: 97-101.
45. Takeda, E., I. Yokota, I. Kawakami, T. Hashimoto, Y. Kuroda, and S. Arase. 1989. Two siblings with vitamin-D-dependent rickets type II: no recurrence of rickets for 14 years after cessation of therapy. Eur. J. Pediatr. 149:54-57.
46. al-Aqeel, A., P. Ozand, S. Sobki, W. Sewairi, and S. Marx. 1993. The combined use of intravenous and oral calcium for the treatment of vitamin D dependent rickets type II (VDDRII). Clin. Endocrinol. 39:229-237.
47. Balsan, S., M. Garabedian, M. Larchet, A.M. Gorski, G. Cournot, C. Tau, A. Bourdeau, C. Silve, and C. Ricour. 1986. Long-term nocturnal calcium infusions can cure rickets and promote normal mineralization in hereditary resistance to 1,25-dihydroxyvitamin D.J. Clin. Invest. 77:1661-1667.
48. Weisman, Y., I. Bab, D. Gazit, Z. Spirer, M. Jaffe, and Z. Hochberg. 1987. Long-term intracaval calcium infusion therapy in end-organ resistance to 1,25-dihydroxyvitamin D. Am. J. Med. 83:984-990.
49. Bliziotes, M., A.L. Yergey, M.S. Nanes, J. Meunzer, M.G. Begley, N.E. Viera, K.K. Kher, M.L. Brandi, and S.J. Marx. 1988. Absent intestinal response to calciferols in hereditary resistance to 1,25-dihydroxyvitamin D: documentation and effective therapy with high dose intravenous calcium infusions. J. Clin. Endocrinol. Metab. 66:294-300.
50. Wagner, R.L., J.W. Apriletti, M.E. McGrath, B.L. West, J.D. Baxter, and R.J. Fletterick. 1995. A structural role for hormone in the thyroid hormone receptor. Nature (Lond.). 378:690-697.
51. Renaud, J.P., N. Rochel, M. Ruff, V. Vivat, P. Chambon, H. Gronemeyer, and D. Moras. 1995. Crystal structure of the RAR-gamma ligand-binding domain bound to all-trans retinoic acid. Nature (Lond.). 378:681-689.
52. Bourguet, W., M. Ruff, P. Chambon, H. Gronemeyer, and D. Moras. 1995. Crystal structure of the ligand-binding domain of the human nuclear receptor RXR-alpha. Nature (Lond.). 375:377-382.
53. Refetoff, S., R.E. Weiss, and S.J. Usala. 1993. The syndromes of resistance to thyroid hormone. Endocrinol. Rev. 14:348-399.