Simultaneous sequencing of 24 genes associated with steroid-resistant nephrotic syndrome.

ABSTRACT:

Background and objectives

Up to 95% of children presenting with steroid-resistant nephrotic syndrome in early life will have a pathogenic single-gene mutation in 1 of 24 genes currently associated with this disease. Others may be affected by polymorphic variants. There is currently no accepted diagnostic algorithm for clinical genetic testing. The hypothesis was that the increasing reliability of next generation sequencing allows comprehensive one-step genetic investigation of this group and similar patient groups.

Design, setting, participants, & measurements

This study used next generation sequencing to screen 446 genes, including the 24 genes known to be associated with hereditary steroid-resistant nephrotic syndrome. The first 36 pediatric patients collected through a na

SUBMITTER: McCarthy HJ 

PROVIDER: S-EPMC3613958 | biostudies-literature | 2013 Apr

REPOSITORIES: biostudies-literature