Vitamin D Hydroxylation-Deficient Rickets, Type I
OMIM:264700Mode of inheritance:Autosomal recessive
Disease classification:Endocrine, nutritional and metabolic disease
Mutations
| Gene Symbol | CYP27B1 |
|---|---|
| Reference transcript | NM_000785.3 |
| DNA Change | c.1494delA |
| A.A. Change | p.Arg499GlyfsX42 |
| Exon/Intron | exon 9 |
| Mutation Type | deletion |
| Reference | Kim CJ, Kaplan LE, Perwad F, Huang N, Sharma A, Choi Y, Miller WL, Portale AA.Vitamin D 1alpha-hydroxylase gene mutations in patients with 1alpha-hydroxylase deficiency. J Clin Endocrinol Metab. 2007 Aug;92(8):3177-82. |