Autosomal recessive hypophosphatemic rickets type 2; a novel mutation in the ENPP1 gene
Yıl: 2022 Cilt: 64 Sayı: 3 Sayfa Aralığı: 585 - 591 Metin Dili: İngilizce DOI: 10.24953/turkjped.2021.829 İndeks Tarihi: 15-12-2022
Autosomal recessive hypophosphatemic rickets type 2; a novel mutation in the ENPP1 gene
Öz: 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.
Anahtar Kelime: Belge Türü: Makale Makale Türü: Olgu Sunumu Erişim Türü: Erişime Açık
- 1. Şıklar Z, Turan S, Bereket A, et al. Nationwide Turkish Cohort Study of Hypophosphatemic Rickets. J Clin Res Pediatr Endocrinol 2020; 12: 150-159. https://doi. org/10.4274/jcrpe.galenos.2019.2019.0098
- 2. Guven A, Al-Rijjal RA, BinEssa HA, et al. Mutational analysis of PHEX, FGF23 and CLCN5 in patients with hypophosphataemic rickets. Clin Endocrinol (Oxf) 2017; 87: 103-112. https://doi.org/10.1111/ cen.13347
- 3. Acar S, Demir K, Shi Y. Genetic causes of rickets. J Clin Res Pediatr Endocrinol 2017; 30: 88-105. https:// doi.org/10.4274/jcrpe.2017.S008
- 4. Prié D, Friedlander G. Genetic disorders of renal phosphate transport. N Engl J Med 2010; 362: 2399- 2409. https://doi.org/10.1056/NEJMra0904186
- 5. Rutsch F, Ruf N, Vaingankar S, et al. Mutations in ENPP1 are associated with ‘idiopathic’ infantile arterial calcification. Nat Genet 2003; 34: 379-381. https://doi.org/10.1038/ng1221
- 6. Lorenz-Depiereux B, Schnabel D, Tiosano D, Häusler G, Strom TM. Loss-of-function ENPP1 mutations cause both generalized arterial calcification of infancy and autosomal-recessive hypophosphatemic rickets. Am J Hum Genet 2010; 86: 267-272. https:// doi.org/10.1016/j.ajhg.2010.01.006
- 7. Turan S, Topcu B, Gökçe İ, et al. Serum alkaline phosphatase levels in healthy children and evaluation of alkaline phosphatase z- scores in different types of rickets. J Clin Res Pediatr Endocrinol 2011; 3: 7-11. https://doi.org/10.4274/jcrpe.v3i1.02
- 8. Staretz-Chacham O, Shukrun R, Barel O, et al. Novel homozygous ENPP1 mutation causes generalized arterial calcifications of infancy, thrombocytopenia, and cardiovascular and central nervous system syndrome. Am J Med Genet A 2019; 179: 2112-2118. https://doi.org/10.1002/ajmg.a.61334
- 9. Chourabi M, Liew MS, Lim S, et al. ENPP1 Mutation Causes Recessive Cole Disease by Altering Melanogenesis. J Invest Dermatol 2018; 138: 291-300. https://doi.org/10.1016/j.jid.2017.08.045
- 10. Brunod I, Tosello B, Hassid S, Gire C, Thomachot L, Panuel M. Generalized arterial calcification of infancy with a novel ENPP1 mutation: a case report. BMC Pediatr 2018; 18: 217. https://doi.org/10.1186/ s12887-018-1198-4
| APA | Çelebi Bitkin E, Aymelek H (2022). Autosomal recessive hypophosphatemic rickets type 2; a novel mutation in the ENPP1 gene. , 585 - 591. 10.24953/turkjped.2021.829 |
| Chicago | Çelebi Bitkin Eda,Aymelek Huri Sema Autosomal recessive hypophosphatemic rickets type 2; a novel mutation in the ENPP1 gene. (2022): 585 - 591. 10.24953/turkjped.2021.829 |
| MLA | Çelebi Bitkin Eda,Aymelek Huri Sema Autosomal recessive hypophosphatemic rickets type 2; a novel mutation in the ENPP1 gene. , 2022, ss.585 - 591. 10.24953/turkjped.2021.829 |
| AMA | Çelebi Bitkin E,Aymelek H Autosomal recessive hypophosphatemic rickets type 2; a novel mutation in the ENPP1 gene. . 2022; 585 - 591. 10.24953/turkjped.2021.829 |
| Vancouver | Çelebi Bitkin E,Aymelek H Autosomal recessive hypophosphatemic rickets type 2; a novel mutation in the ENPP1 gene. . 2022; 585 - 591. 10.24953/turkjped.2021.829 |
| IEEE | Çelebi Bitkin E,Aymelek H "Autosomal recessive hypophosphatemic rickets type 2; a novel mutation in the ENPP1 gene." , ss.585 - 591, 2022. 10.24953/turkjped.2021.829 |
| ISNAD | Çelebi Bitkin, Eda - Aymelek, Huri Sema. "Autosomal recessive hypophosphatemic rickets type 2; a novel mutation in the ENPP1 gene". (2022), 585-591. https://doi.org/10.24953/turkjped.2021.829 |
| APA | Çelebi Bitkin E, Aymelek H (2022). Autosomal recessive hypophosphatemic rickets type 2; a novel mutation in the ENPP1 gene. Turkish Journal of Pediatrics, 64(3), 585 - 591. 10.24953/turkjped.2021.829 |
| Chicago | Çelebi Bitkin Eda,Aymelek Huri Sema Autosomal recessive hypophosphatemic rickets type 2; a novel mutation in the ENPP1 gene. Turkish Journal of Pediatrics 64, no.3 (2022): 585 - 591. 10.24953/turkjped.2021.829 |
| MLA | Çelebi Bitkin Eda,Aymelek Huri Sema Autosomal recessive hypophosphatemic rickets type 2; a novel mutation in the ENPP1 gene. Turkish Journal of Pediatrics, vol.64, no.3, 2022, ss.585 - 591. 10.24953/turkjped.2021.829 |
| AMA | Çelebi Bitkin E,Aymelek H Autosomal recessive hypophosphatemic rickets type 2; a novel mutation in the ENPP1 gene. Turkish Journal of Pediatrics. 2022; 64(3): 585 - 591. 10.24953/turkjped.2021.829 |
| Vancouver | Çelebi Bitkin E,Aymelek H Autosomal recessive hypophosphatemic rickets type 2; a novel mutation in the ENPP1 gene. Turkish Journal of Pediatrics. 2022; 64(3): 585 - 591. 10.24953/turkjped.2021.829 |
| IEEE | Çelebi Bitkin E,Aymelek H "Autosomal recessive hypophosphatemic rickets type 2; a novel mutation in the ENPP1 gene." Turkish Journal of Pediatrics, 64, ss.585 - 591, 2022. 10.24953/turkjped.2021.829 |
| ISNAD | Çelebi Bitkin, Eda - Aymelek, Huri Sema. "Autosomal recessive hypophosphatemic rickets type 2; a novel mutation in the ENPP1 gene". Turkish Journal of Pediatrics 64/3 (2022), 585-591. https://doi.org/10.24953/turkjped.2021.829 |
