Background: Hypophosphatemic rickets (HR) is a rare disease caused by several genetic mutations in factors that cause an increase in fibroblast growth factor 23 (FGF23), and renal phosphate transporters. ENPP1 (ectonucleotide pyrophosphatase / phosphodiesterase 1) mutations cause autosomal recessive inheritance hypophosphatemic rickets type 2.
Case: In our study, we present a novel mutation in the ENPP1 gene detected in 4 siblings in a single family.
Conclusion: Our findings can be applied to further understand molecular pathogenesis and to establish a correlation between genotype and phenotype for HR.
Keywords: ENPP1 gene; hypophosphatemic rickets; novel mutation.