Two new unrelated cases of hereditary 1,25-Dihydroxyvitamin D-resistant rickets with alopecia resulting from the same novel nonsense mutation in the vitamin D receptor gene

Journal of Pediatric Endocrinology and Metabolism

Volumn 23, Issue 8, 2010, Pages 843-850

  Forghani, Nikta ^a   Lum, Catherine ^b   Krishnan, Sowmya ^c   Wang, Jining ^a   Wilson, Darrel M ^a   Blackett, Piers R ^c   Malloy, Peter J ^a   Feldman, David ^a  

^a STANFORD UNIVERSITY SCHOOL OF MEDICINE   (United States)

^b UNIVERSITY OF CALIFORNIA   (United States)

^c UNIVERSITY OF OKLAHOMA COLLEGE OF MEDICINE   (United States)

Author keywords

Calcitriol; Calcium; Hair; Intravenous therapy; PTH

Indexed keywords

CALCITRIOL; CALCIUM; CYTOCHROME P450; GENOMIC DNA; PHOSPHORUS; VITAMIN D RECEPTOR;

ALOPECIA; ARTICLE; CASE REPORT; CHILD; ENZYME INDUCTION; EVENING DOSAGE; FEMALE; GENE EXPRESSION; GENE MUTATION; HUMAN; HYPOCALCEMIA; HYPOPHOSPHATEMIA; NONSENSE MUTATION; PRESCHOOL CHILD; RICKETS; SCANTY HAIR; SKIN FIBROBLAST; STOP CODON;

ALOPECIA; BIOLOGICAL MARKERS; CHILD, PRESCHOOL; CODON, NONSENSE; DNA MUTATIONAL ANALYSIS; DRUG RESISTANCE; ENZYME INDUCTION; FEMALE; FIBROBLASTS; GENE EXPRESSION; HUMANS; RECEPTORS, CALCITRIOL; RICKETS; SKIN; STEROID HYDROXYLASES; VITAMIN D;

EID: 77958531382     PISSN: 0334018X     EISSN: None     Source Type: Journal    
DOI: 10.1515/jpem.2010.136     Document Type: Article

References (16)

1. Malloy PJ, Pike JW and Feldman D. The vitamin D receptor and the syndrome of hereditary 1,25-dihydroxyvitamin D-resistant rickets. Endocr Rev 1999; 20: 156-188.
2. Malloy PJ, Pike JW and Feldman D. Hereditary 1,25-dihydroxyvitamin D resistant rickets. In: Feldman D, Pike JW and Glorieux F, eds. Vitamin D, Second Edition. San Diego: Elsevier, 2005; 1207-1238.
3. Malloy PJ and Feldman D. Genetic disorders and defects in vitamin D action. Endocrinol Metab Clin North Am 2010; in press.
4. Miller J, Djabali K, Chen T, Liu Y, Ioffreda M, Lyle S, Christiano AM, Holick M and Cotsarelis G. Atrichia caused by mutations in the vitamin D receptor gene is a phenocopy of generalized atrichia caused by mutations in the hairless gene. J Invest Dermatol 2001; 117: 612-617.
5. Nguyen M, d'Alesio A, Pascussi JM, Kumar R, Griffin MD, Dong X, Guillozo H, Rizk-Rabin M, Sinding C, Bougneres P, Jehan F and Garabedian M. Vitamin D-resistant rickets and type 1 diabetes in a child with compound heterozygous mutations of the vitamin D receptor (L263R and R391S): dissociated responses of the CYP-24 and rel-B promoters to 1,25-dihydroxyvitamin D3. J Bone Miner Res 2006; 21: 886-894.
6. Zhou Y, Wang J, Malloy PJ, Dolezel Z and Feldman D. Compound heterozygous mutations in the vitamin D receptor in a patient with hereditary 1,25-dihydroxyvitamin D-resistant rickets with alopecia. J Bone Miner Res 2009; 24: 643-651.
7. Fu GK, Lin D, Zhang MY, Bikle DD, Shackleton CH, Miller WL and Portale AA. Cloning of human 25-hydroxyvitamin D-1 alpha-hydroxylase and mutations causing vitamin D-dependent rickets type 1. Mol Endocrinol 1997; 11: 1961-1970.
8. Malloy PJ, Hochberg Z, Tiosano D, Pike JW, Hughes MR and Feldman D. The molecular basis of hereditary 1,25-dihydroxyvitamin D3 resistant rickets in seven related families. Journal of Clinical Investigation 1990; 86:2071-2079.
9. Malloy PJ, Wang J, Peng L, Nayak S, Sisk JM, Thompson CC 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 2007; 460: 285-292.
10. Bradford MM. A rapid and sensitive method for the quantitation of microgram quantities of protein utilizing the principle of protein dye binding. Analytical Biochemistry 1976; 72: 248-254.
11. Gross C, Eccleshall TR, Malloy PJ, Villa ML, 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 1996; 11: 1850-1855.
12. Saijo T, Ito M, Takeda E, Huq AH, Naito E, Yokota I, Sone T, Pike JW and Kuroda Y. 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. Americ̀an Journal of Human Genetics 1991; 49: 668-673.
13. Hewison M. Vitamin D and innate immunity. Curr Opin Investig Drugs 2008; 9: 485-490.
14. Katavetin P, Wacharasindhu S and Shotelersuk V. A girl with a novel splice site mutation in VDR supports the role of a ligand-independent VDR function on hair cycling. Horm Res 2006; 66: 273-276.
15. Ma NS, Malloy PJ, Pitukcheewanont P, Dreimane D, Geffher ME 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 2009; 45: 743-746.
16. Skorija K, Cox M, Sisk JM, Dowd DR, MacDonald PN, Thompson CC and Demay MB. Ligand-independent actions of the vitamin D receptor maintain hair follicle homeostasis. Mol Endocrinol 2005; 19: 855-862.