A novel missense mutation (C84R) in a patient with type II vitamin D-dependent rickets

Experimental and Clinical Endocrinology and Diabetes

Volumn 118, Issue 3, 2010, Pages 177-179

  Asunis, I ^a,b   Marini, M G ^a,b   Porcu, L ^a   Meloni, A ^a   Cabriolu, A L ^a   Cao, A ^a,b   Moi, P ^a  

^a UNIVERSITY OF CAGLIARI   (Italy)

^b CNR   (Italy)

Author keywords

Missense mutant; Vitamin D dependent rickets type II; Vitamin D receptor

Indexed keywords

CALCITRIOL; CALCIUM CARBONATE; VITAMIN D; VITAMIN D RECEPTOR;

ALOPECIA; AMINO ACID SUBSTITUTION; ARTICLE; BIRTH WEIGHT; BONE RADIOGRAPHY; BREAST FEEDING; CASE REPORT; CHILD; DIFFERENTIAL DIAGNOSIS; DNA BINDING; FAILURE TO THRIVE; HEAD CIRCUMFERENCE; HUMAN; KYPHOSIS; MALE; MISSENSE MUTATION; MUSCLE HYPOTONIA; OSTEOPENIA; PRIORITY JOURNAL; PROTEIN DOMAIN; RICKETS; SCHOOL CHILD; VITAMIN D DEFICIENCY; VITAMIN D DEPENDENT RICKETS, TYPE II; VITAMIN SUPPLEMENTATION;

AMINO ACID SEQUENCE; AMINO ACID SUBSTITUTION; CHILD; HOMOZYGOTE; HUMANS; MALE; MOLECULAR SEQUENCE DATA; MUTATION, MISSENSE; RECEPTORS, CALCITRIOL; RICKETS; VITAMIN D DEFICIENCY;

EID: 77949535199     PISSN: 09477349     EISSN: 14393646     Source Type: Journal    
DOI: 10.1055/s-0028-1103275     Document Type: Article

References (12)

1. Hughes MR, Malloy PJ, Kieback DG, etal. Point mutations in the human vitamin D receptor gene associated with hypocalcemic rickets. Science 1988 242 1702-1705
2. Kristjansson K, Rut AR, Hewison M, etal. Two mutations in the hormone binding domain of the vitamin D receptor cause tissue resistance to 1,25 dihydroxyvitamin D3. J Clin Invest 1993 92 12-16
3. Lin NU, Malloy PJ, Sakati N, etal. A novel mutation in the deoxyribonucleic acid-binding domain of the vitamin D receptor causes hereditary 1,25-dihydroxyvitamin D-resistant rickets. J Clin Endocrinol Metab 1996 81 2564-2569
4. Malloy PJ, Eccleshall TR, Gross C, etal. 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. J Clin Invest 1997 99 297-304
5. Mechica JB, Leite MO, Mendonca BB, etal. A novel nonsense mutation in the first zinc finger of the vitamin D receptor causing hereditary 1,25-dihydroxyvitamin D3-resistant rickets. J Clin Endocrinol Metab 1997 82 3892-3894
6. Miyamoto K, Kesterson RA, Yamamoto H, etal. Structural organization of the human vitamin D receptor chromosomal gene and its promoter. Mol Endocrinol 1997 11 1165-1179
7. Ritchie HH, Hughes MR, Thompson ET, etal. An ochre mutation in the vitamin D receptor gene causes hereditary 1,25-dihydroxyvitamin D3-resistant rickets in three families. Proc Natl Acad Sci USA 1989 86 9783-9787
8. Saijo T, Ito M, Takeda E, etal. 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 1991 49 668-673
9. Sone T, Scott RA, Hughes MR, etal. Mutant vitamin D receptors which confer hereditary resistance to 1,25-dihydroxyvitamin D3 in humans are transcriptionally inactive in vitro. J Biol Chem 1989 264 20230-20234
10. Takeda E, Yokota I, Kawakami I, etal. Two siblings with vitamin-D-dependent rickets type II: no recurrence of rickets for 14 years after cessation of therapy. Eur J Pediatr 1989 149 54-57
11. Maldergem L Van, Bachy A, Feldman D, etal. Syndrome of lipoatrophic diabetes, vitamin D resistant rickets, and persistent Mullerian ducts in a Turkish boy born to consanguineous parents. Am J Med Genet 1996 64 506-513
12. Whitfield GK, Selznick SH, Haussler CA, etal. Vitamin D receptors from patients with resistance to 1,25-dihydroxyvitamin D3: point mutations confer reduced transactivation in response to ligand and impaired interaction with the retinoid X receptor heterodimeric partner. Mol Endocrinol 1996 10 1617-1631