A comprehensive analysis of NPHS1 gene mutations in patients with sporadic focal segmental glomerulosclerosis.

ABSTRACT:

Background

Focal segmental glomerulosclerosis (FSGS) is still one of the common causes of refractory nephrotic syndrome. Nephrin, encoded by podocyte-specific NPHS1 gene, participated in the pathogenesis of FSGS. The sites of NPHS1 mutations in FSGS is not clarified very well. In this study, we investigated the specific mutations of NPHS1 gene in Chinese patients with sporadic FSGS.

Methods

A total of 309 patients with sporadic FSGS were collected and screened for NPHS1 mutations by second-generation sequencing. The variants were compared with those extracted from 2504 healthy controls in the 1000 Genomes Project. The possible pathogenic roles of missense variants were predicted by three different software. We also compared these candidate causal mutations with those summari

SUBMITTER: Zhuo L 

PROVIDER: S-EPMC6585123 | biostudies-literature | 2019 Jun

REPOSITORIES: biostudies-literature