Targeted gene panel for genetic testing of south Indian children with steroid resistant nephrotic syndrome.

ABSTRACT:

Background

Steroid resistant nephrotic syndrome (SRNS) is a genetically heterogeneous disease with significant phenotypic variability. More than 53 podocyte-expressed genes are implicated in SRNS which complicates the routine use of genetic screening in the clinic. Next generation sequencing technology (NGS) allows rapid screening of multiple genes in large number of patients in a cost-effective manner.

Methods

We developed a targeted panel of 17 genes to determine relative frequency of mutations in south Indian ethnicity and feasibility of using the assay in a clinical setting. Twenty-five children with SRNS and 3 healthy individuals were screened.

Results

In this study, novel variants including 1 pathogenic variant (2 patients) and 3 likely pathogenic variants (3 pa

SUBMITTER: Siji A 

PROVIDER: S-EPMC6245897 | biostudies-literature | 2018 Nov

REPOSITORIES: biostudies-literature