Hereditary 1,25-dihydroxyvitamin D-resistant rickets with alopecia resulting from a novel missense mutation in the DNA-binding domain of the vitamin D receptor

Molecular Genetics and Metabolism

Volumn 99, Issue 1, 2010, Pages 72-79

  Malloy, Peter J ^a   Wang, Jining ^a   Srivastava, Tarak ^b   Feldman, David ^a  

^a STANFORD UNIVERSITY SCHOOL OF MEDICINE   (United States)

^b UNIVERSITY OF MISSOURI KANSAS CITY   (United States)

Author keywords

Calcitriol; Calcium; Hairless; Intravenous; Resistance; Retinoid X receptor

Indexed keywords

CALCITRIOL; CALCIUM; CYTOCHROME P450; CYTOCHROME P450 24A1; ERGOCALCIFEROL; UNCLASSIFIED DRUG; VITAMIN D; VITAMIN D RECEPTOR;

ALOPECIA; ARTICLE; CASE REPORT; CHILD; CONTROLLED STUDY; DNA BINDING; DRUG DOSE TITRATION; FAMILIAL HYPOPHOSPHATEMIC RICKETS; GENE EXPRESSION; HOMOZYGOSITY; HUMAN; HUMAN CELL; HYPOCALCEMIA; HYPOPHOSPHATEMIA; MALE; MISSENSE MUTATION; PRESCHOOL CHILD; PRIORITY JOURNAL; PROTEIN EXPRESSION; PROTEIN PROTEIN INTERACTION; SKIN FIBROBLAST; VITAMIN D RESPONSIVE ELEMENT;

ALOPECIA; AMINO ACID SEQUENCE; ANIMALS; BASE SEQUENCE; BINDING SITES; CALCIUM; CELLS, CULTURED; CERCOPITHECUS AETHIOPS; COS CELLS; DNA MUTATIONAL ANALYSIS; DRUG RESISTANCE; FIBROBLASTS; HUMANS; INFANT; MALE; MOLECULAR SEQUENCE DATA; MUTATION, MISSENSE; RECEPTORS, CALCITRIOL; RICKETS; STEROID HYDROXYLASES; VITAMIN D;

EID: 71649115356     PISSN: 10967192     EISSN: 10967206     Source Type: Journal    
DOI: 10.1016/j.ymgme.2009.09.004     Document Type: Article

References (23)

1. Feldman D., Malloy P.J., Krishnan A.V., and Balint E. Vitamin D: biology, action, and clinical implications. In: Marcus R., Feldman D., Nelson D.A., and Rosen C.J. (Eds). Osteoporosis. third ed. (2007), Academic Press, San Diego 317-382
2. Malloy P.J., Pike J.W., and Feldman D. The vitamin D receptor and the syndrome of hereditary 1,25-dihydroxyvitamin D-resistant rickets. Endocr. Rev. 20 (1999) 156-188
3. Malloy P.J., Pike J.W., and Feldman D. Hereditary 1,25-dihydroxyvitamin D resistant rickets. In: Feldman D., Pike J.W., and Glorieux F. (Eds). Vitamin D. Second ed. (2005), Elsevier, San Diego 1207-1238
4. Feldman D., Chen T., Cone C., Hirst M., Shani S., Benderli A., and Hochberg Z. 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 (1982) 1020-1022
5. Malloy P.J., Hochberg Z., Tiosano D., Pike J.W., Hughes M.R., and Feldman D. The molecular basis of hereditary 1,25-dihydroxyvitamin D3 resistant rickets in seven related families. J. Clin. Invest. 86 (1990) 2071-2079
6. Malloy P.J., Wang J., Peng L., Nayak S., Sisk J.M., Thompson C.C., and Feldman D. A unique insertion/duplication in the VDR gene that truncates the VDR causing hereditary 1,25-dihydroxyvitamin D-resistant rickets without alopecia. Arch. Biochem. Biophys. 460 (2007) 285-292
7. Bradford M.M. A rapid and sensitive method for the quantitation of microgram quantities of protein utilizing the principle of protein dye binding. Anal. Biochem. 72 (1976) 248-254
8. Wang J., Malloy P.J., and Feldman D. Interactions of the vitamin D receptor with the corepressor hairless: analysis of hairless mutants in atrichia with papular lesions. J. Biol. Chem. 282 (2007) 25231-25239
9. Gross C., Eccleshall T.R., Malloy P.J., Villa M.L., Marcus R., and Feldman D. The presence of a polymorphism at the translation initiation site of the vitamin D receptor gene is associated with low bone mineral density in postmenopausal Mexican-American women. J. Bone Miner. Res. 11 (1996) 1850-1855
10. Malloy P.J., Hochberg Z., Pike J.W., and Feldman D. Abnormal binding of vitamin D receptors to deoxyribonucleic acid in a kindred with vitamin D-dependent rickets, type II. J. Clin. Endocrinol. Metab. 68 (1989) 263-269
11. Feldman D., and Malloy P.J. 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 (1990) C57-62
12. Ma N.S., Malloy P.J., Pitukcheewanont P., Dreimane D., Geffner M.E., and Feldman D. Hereditary vitamin D resistant rickets: identification of a novel splice site mutation in the vitamin D receptor gene and successful treatment with oral calcium therapy. Bone 45 (2009) 743-746
13. Goltzman D., Miao D., Panda D.K., and Hendy G.N. Effects of calcium and of the vitamin D system on skeletal and calcium homeostasis: lessons from genetic models. J. Steroid Biochem. Mol. Biol. 89-90 (2004) 485-489
14. Panda D.K., Miao D., Bolivar I., Li J., Huo R., Hendy G.N., and Goltzman D. Inactivation of the 25-hydroxyvitamin D 1alpha-hydroxylase and vitamin D receptor demonstrates independent and interdependent effects of calcium and vitamin D on skeletal and mineral homeostasis. J. Biol. Chem. 279 (2004) 16754-16766
15. Dixon K.M., Deo S.S., Norman A.W., Bishop J.E., Halliday G.M., Reeve V.E., and Mason R.S. In vivo relevance for photoprotection by the vitamin D rapid response pathway. J. Steroid Biochem. Mol. Biol. 103 (2007) 451-456
16. Weisman Y., Bab I., Gazit D., Spirer Z., Jaffe M., and Hochberg Z. Long-term intracaval calcium infusion therapy in end-organ resistance to 1,25-dihydroxyvitamin D. Am. J. Med. 83 (1987) 984-990
17. Adams J.S., and Hewison M. Unexpected actions of vitamin D: new perspectives on the regulation of innate and adaptive immunity. Nat. Clin. Pract. Endocrinol. Metab. 4 (2008) 80-90
18. Adams J.S., Liu P., Chun R., Modlin R.L., and Hewison M. Vitamin D in defense of the human immune response. Ann. N. Y. Acad. Sci. 1117 (2007) 94-105
19. Malloy P.J., Xu R., Peng L., Clark P.A., and Feldman D. A novel mutation in helix 12 of the vitamin D receptor impairs coactivator interaction and causes hereditary 1,25-dihydroxyvitamin D-resistant rickets without alopecia. Mol. Endocrinol. 16 (2002) 2538-2546
20. Malloy P.J., Xu R., Cattani A., Reyes L., and Feldman D. A unique insertion/substitution in helix H1 of the vitamin D receptor ligand binding domain in a patient with hereditary 1,25-dihydroxyvitamin D-resistant rickets. J. Bone Miner. Res. 19 (2004) 1018-1024
21. Malloy P.J., Xu R., Peng L., Peleg S., Al-Ashwal A., and Feldman D. Hereditary 1,25-dihydroxyvitamin D resistant rickets due to a mutation causing multiple defects in vitamin D receptor function. Endocrinology 145 (2004) 5106-5114
22. Hsieh J.C., Sisk J.M., Jurutka P.W., Haussler C.A., Slater S.A., Haussler M.R., and Thompson C.C. Physical and functional interaction between the vitamin D receptor and hairless corepressor, two proteins required for hair cycling. J. Biol. Chem. 278 (2003) 38665-38674
23. Skorija K., Cox M., Sisk J.M., Dowd D.R., MacDonald P.N., Thompson C.C., and Demay M.B. Ligand-independent actions of the vitamin D receptor maintain hair follicle homeostasis. Mol. Endocrinol. 19 (2005) 855-862