Identification of six novel variants from nine Chinese families with hypophosphatemic rickets.

ABSTRACT:

Background

Hypophosphatemic rickets (HR) is a rare genetic disorder associated with renal phosphate wasting and characterized by bone defects. Inactivating mutations in the phosphate regulating endopeptidase homolog X‑linked gene (PHEX) account for most cases of HR. The aim of this study was to identify causative variants in nine unrelated Chinese families associated with HR, and to determine potential pathogenicity of the identified variants.

Methods

Genomic DNA was isolated from the peripheral blood of HR patients and their healthy relatives, followed by next-generation sequencing and/or Sanger sequencing. In silico prediction combined with conservation analysis was performed to assess the effects of the variants, and 3D protein modeling was conducted to predict the functi

SUBMITTER: Cao Y 

PROVIDER: S-EPMC9287957 | biostudies-literature | 2022 Jul

REPOSITORIES: biostudies-literature