Background: Hereditary 1,25-dihydroxyvitamin D resistant rickets (HVDRR) caused by vitamin D defective receptor.
Objective and hypotheses: We performed VDR gene analysis four patients with alopecia, skeletal dysplasia, and hypocalcaemia.
Method: Genomic DNA extracted from peripheric blood. Whole gene sequence analysis was performed.
Results: We found homozigot p.Q152* (c.454G>T) mutation three patients. Two of this three patients were siblings. There is homozygous p.R50* (c.148C>T) mutation in one patient.
Conclusion: HVDRR is a rare autosomal recessive disease caused by the mutations in VDR gene. Here we report clinical and laboratory findings of four patients.
01 - 03 Oct 2015
European Society for Paediatric Endocrinology