The Turkish Journal of Pediatrics 2022 , Vol 64 , Num 3
Autosomal recessive hypophosphatemic rickets type 2; a novel mutation in the ENPP1 gene
Eda Çelebi Bitkin 1 ,Huri Sema Aymelek 2
1 Division of Pediatric Endocrinology, Van Yüzüncü Yıl University Faculty of Medicine Van, Turkey
2 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

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