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Autosomal recessive hypophosphatemic rickets type 2; a novel mutation in the ENPP1 gene
Eda Çelebi Bitkin1, Huri Sema Aymelek2
1Division of Pediatric Endocrinology, Van Yüzüncü Yıl University Faculty of Medicine Van, Turkey.
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.
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