Functional Analysis of VDR Gene Mutation R343H in A Child with Vitamin D-Resistant Rickets with Alopecia.

ABSTRACT: The functional study of different mutations on vitamin D receptor (VDR) gene causing hereditary vitamin D-resistant rickets (HVDRR) remains limited. This study was to determine the VDR mutation and the mechanisms of this mutation-causing phenotype in a family with HVDRR and alopecia. Phenotype was analyzed, and in vitro functional studies were performed. The proband and his affected sister exhibited typical HVDRR with alopecia, and their biochemical and radiographic abnormalities but not alopecia responded to supraphysiological doses of active vitamin D₃. A novel homozygous missense R343H mutation in the exon 9 of VDR residing in the retinoid X receptor (RXR)-binding domain was identified. The expression level and C-terminal conformation of R343H mutant are not different from th

SUBMITTER: Tseng MH 

PROVIDER: S-EPMC5681508 | biostudies-literature | 2017 Nov

REPOSITORIES: biostudies-literature