The Turkish Journal of Pediatrics
2022 , Vol 64 , Num 3
Autosomal recessive hypophosphatemic rickets type 2; a novel mutation in the ENPP1 gene
1 Division of Pediatric Endocrinology, Van Yüzüncü Yıl University Faculty of Medicine Van, Turkey2 Department of Pediatrics and Department of Medical Genetic, Van Yüzüncü Yıl University Faculty of Medicine Van, Turkey DOI : 10.24953/turkjped.2021.829 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 : hypophosphatemic rickets, ENPP1 gene, novel mutation