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This study identified two distinct VDR gene mutations among Lebanese families with hereditary vitamin D-resistant rickets, noting varied treatment responses and promising outcomes despite severe phenotypes.

In this study, researchers observed that the success of treating hereditary vitamin D–resistant rickets in children depends on the mutation location in the VDR gene, notably with favorable dental development outcomes for those with the p.R391S mutation, despite persistent alopecia.

This study identified three new mutations in the VDR ligand-binding domain that may cause dysfunction, and noted that oral calcium and calcidol treatment was effective, but only one patient experienced hair growth.

In this study, eight patients with hereditary vitamin D-resistant rickets who share a specific VDR mutation showed improved clinical symptoms except alopecia after up to 11 years of treatment.

This case report documents a female toddler with novel compound heterozygous mutations in the VDR gene causing hereditary 1,25-dihydroxyvitamin D-resistant rickets, expanding the known mutation spectrum for this disease.