Generation of Monogenic Candidate Genes for Human Nephrotic Syndrome Using 3 Independent Approaches.

ABSTRACT:

Introduction

Steroid-resistant nephrotic syndrome (SRNS) is the second most common cause of chronic kidney disease during childhood. Identification of 63 monogenic human genes has delineated 12 distinct pathogenic pathways.

Methods

Here, we generated 2 independent sets of nephrotic syndrome (NS) candidate genes to augment the discovery of additional monogenic causes based on whole-exome sequencing (WES) data from 1382 families with NS.

Results

We first identified 63 known monogenic causes of NS in mice from public databases and scientific publications, and 12 of these genes overlapped with the 63 known human monogenic SRNS genes. Second, we used a set of 64 genes that are regulated by the transcription factor Wilms tumor 1 (WT1), which causes SRNS if mutated. Thirteen

SUBMITTER: Klambt V 

PROVIDER: S-EPMC7879125 | biostudies-literature | 2021 Feb

REPOSITORIES: biostudies-literature