Article
Hereditary 1,25-dihydroxyvitamin D resistant rickets due to a mutation causing multiple defects in vitamin D receptor function.
Endocrinology - 1 Nov 2004
Malloy Peter J, Xu Rong, Peng Lihong, Peleg Sara, Al-Ashwal Abdullah, Feldman David
Abstract excerpt
Hereditary vitamin D-resistant rickets (HVDRR) is an autosomal recessive disease caused by mutations in the vitamin D receptor (VDR). We studied a young Saudi Arabian girl who exhibited the typical clinical features of HVDRR, but without alopecia. Analysis of her VDR gene revealed a homozygous T to C mutation in exon 7 that changed isoleucine to threonine at amino acid 268 (I268T). From crystallographic studies...
Topics
- Alopecia
- Animals
- Binding Sites
- COS Cells
- Calcitriol
- Calcium Channel Agonists
- Dimerization
- Drug Resistance
- Female
- Genotype
- Humans
- Infant
- Peptide Hydrolases
- Point Mutation
- Polymorphism, Restriction Fragment Length