Experience with the targeted next-generation sequencing in the diagnosis of hereditary hypophosphatemic rickets


Turan I., Erdem S., Kotan L. D. , Ozdemir Dilek S., Tastan M., Gurbuz F., ...More

JOURNAL OF PEDIATRIC ENDOCRINOLOGY & METABOLISM, vol.34, no.5, pp.639-648, 2021 (Journal Indexed in SCI) identifier identifier identifier

  • Publication Type: Article / Article
  • Volume: 34 Issue: 5
  • Publication Date: 2021
  • Doi Number: 10.1515/jpem-2020-0624
  • Title of Journal : JOURNAL OF PEDIATRIC ENDOCRINOLOGY & METABOLISM
  • Page Numbers: pp.639-648
  • Keywords: DMP1, ENPP1, hypophosphatemic rickets, PHEX, SLC34A1, SLC34A3, targeted next-generation sequencing gene panel, PEX GENE, MUTATIONAL ANALYSIS, DMP1, SLC34A3, PROTEIN, INFANCY, PHEX

Abstract

Objectives: Hereditary Hypophosphatemic Rickets (HHR) is a heterogeneous group of disorders characterized by hypophosphatemia. Although the X-linked dominant HHR is the most common form, the genetic etiology of HHR is variable. Recently, developed next-generation sequencing techniques may provide opportunities for making HHR diagnosis in a timely and efficient way.