Autosomal recessive hypophosphatemic rickets type 2; a novel mutation in the ENPP1 gene


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Bitkin E. C., Aymelek H. S.

TURKISH JOURNAL OF PEDIATRICS, vol.64, no.3, pp.585-591, 2022 (SCI-Expanded) identifier identifier identifier identifier

  • Publication Type: Article / Article
  • Volume: 64 Issue: 3
  • Publication Date: 2022
  • Doi Number: 10.24953/turkjped.2021.829
  • Journal Name: TURKISH JOURNAL OF PEDIATRICS
  • Journal Indexes: Science Citation Index Expanded (SCI-EXPANDED), Scopus, CAB Abstracts, EMBASE, MEDLINE, Veterinary Science Database, TR DİZİN (ULAKBİM)
  • Page Numbers: pp.585-591
  • Keywords: &nbsp, hypophosphatemic rickets, ENPP1 gene, novel mutation, DISEASE
  • Van Yüzüncü Yıl University Affiliated: Yes

Abstract

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.