<b>Context:</b> Vitamin D-dependent rickets type 2A (VDDR2A) is a rare autosomal recessive disorder and is caused by mutations in the vitamin D receptor gene (<i>VDR</i>), leading to end-organ resistance to 1,25(OH)<sup>2</sup>D<sup>3</sup>.
In this report, we describe a female patient with VDDR2A caused by an early stop codon (R30X) in the VDR gene that resulted in a severely truncated VDR protein.
Atrichia with papules also occurs in the clinical setting of vitamin D-dependent rickets type IIA (VDDR IIA; OMIM 277440), resulting from mutations in the vitamin D receptor gene on chromosome 12q12-q14.
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.
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.
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.
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.
The risk of osteoporosis in the VDR-rs2228570 polymorphism T-allele carriers was significantly higher than that in CC (CT/TT versus CC) individuals (adjusted odds ratio [OR] [95% confidence interval (CI)] = 1.76 [1.33-2.22]).
The correlations between osteoporosis and either the BsmI restriction site polymorphism in VDR or the (TA)n repeat polymorphism in ESR1 were analyzed in 73 and 67 genotyped patients, respectively.
In this study, VDR gene <i>ApaI</i> (rs7975232), <i>BsmI</i> (rs 1544410) and <i>TaqI</i> (rs731236) genotypes were compared in men with osteoporosis and male controls.
Thus, the greater therapeutic effects of AH-1 than those of 1α,25(OH)<sub>2</sub>D<sub>3</sub> in in vivo studies using osteoporosis rat models may be due to 24R-hydroxy-AH-1 whose VDR affinity was 91% of that of AH-1.
The AA genotype (c.1024+283G>A gene variant; VDR gene) was associated with lower <i>Z</i> scores before ERT vs GA (<i>P</i>=0.033), was encountered in 82.3% of patients with osteoporosis and was more frequent in patients with pathological fractures.