VDR Gene Analysis of Four Patients with Hereditary 1,25 Dihydroxyvitamin D-Resistant Rickets

We present the VDR gene analysis results of four hereditary 1,25-dihydroxyvitamin D-resistant rickets (HVDRR) patients with severe skeletal dysplasia, alopecia, and hypocalcaemia. Genomic DNA was extracted from peripheral blood samples of these four patients. Whole gene sequencing was performed for VDR gene. We identified the same p.Q152*(c.454G>T) homozygous mutation in VDR gene in three of these patients. One of the patients had a homozygous p.R50*(c.148C>T) mutation in this gene. HVDRR is an autosomal recessive disease caused by mutations in VDR gene. We reported four patients, one of whom had a new mutation in VDR gene.