Autosomal recessive hypophosphatemic rickets type 2; a novel mutation in the ENPP1 gene
TURKISH JOURNAL OF PEDIATRICS, cilt.64, sa.3, ss.585-591, 2022 (SCI-Expanded, Scopus, TRDizin)
- Yayın Türü: Makale / Tam Makale
- Cilt numarası: 64 Sayı: 3
- Basım Tarihi: 2022
- Doi Numarası: 10.24953/turkjped.2021.829
- Dergi Adı: TURKISH JOURNAL OF PEDIATRICS
- Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus, CAB Abstracts, EMBASE, MEDLINE, Veterinary Science Database, TR DİZİN (ULAKBİM)
- Sayfa Sayıları: ss.585-591
- Anahtar Kelimeler:  , hypophosphatemic rickets, ENPP1 gene, novel mutation, DISEASE
- Açık Arşiv Koleksiyonu: AVESİS Açık Erişim Koleksiyonu
- Van Yüzüncü Yıl Üniversitesi Adresli: Evet
Özet
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.