Vitamin D-dependent rickets, type 2B
Vitamin D-dependent rickets type 2B is characterized by bone deformations typical of vitamin D deficiency despite of hight levels of serum calcitriol (1,25-hydroxy vitamin D). The disease is not caused by loss-of-function mutations in the vitamin D receptor gene. Hypothetical mutations interfering vitamin D receptor DNA binding are accused. The RXRA gene may be a likely candidate.
Chen H et al. (2003) Heterogeneous nuclear ribonucleoprotein (hnRNP) binding to hormone response elements: a cause of vitamin D resistance.[^]
Chen H et al. (2006) Functional characterization of heterogeneous nuclear ribonuclear protein C1/C2 in vitamin D resistance: a novel response element-binding protein.[^]
Giraldo A et al. (1995) Vitamin D dependent rickets type II and normal vitamin D receptor cDNA sequence. A cluster in a rural area of Cauca, Colombia, with more than 200 affected children.[^]
Hewison M et al. (1993) Tissue resistance to 1,25-dihydroxyvitamin D without a mutation of the vitamin D receptor gene.[^]
OMIM.ORG articleOmim 600785 [^]