Rapid detection of monogenic causes of childhood-onset steroid-resistant nephrotic syndrome.

ABSTRACT:

Background and objectives

In steroid-resistant nephrotic syndrome (SRNS), >21 single-gene causes are known. However, mutation analysis of all known SRNS genes is time and cost intensive. This report describes a new high-throughput method of mutation analysis using a PCR-based microfluidic technology that allows rapid simultaneous mutation analysis of 21 single-gene causes of SRNS in a large number of individuals.

Design, setting, participants, & measurements

This study screened individuals with SRNS; samples were submitted for mutation analysis from international sources between 1996 and 2012. For proof of principle, a pilot cohort of 48 individuals who harbored known mutations in known SRNS genes was evaluated. After improvements to the method, 48 individuals with an unknow

SUBMITTER: Lovric S 

PROVIDER: S-EPMC4046728 | biostudies-literature | 2014 Jun

REPOSITORIES: biostudies-literature