Whole Exome Sequencing of Patients with Steroid-Resistant Nephrotic Syndrome.

ABSTRACT:

Background and objectives

Steroid-resistant nephrotic syndrome overwhelmingly progresses to ESRD. More than 30 monogenic genes have been identified to cause steroid-resistant nephrotic syndrome. We previously detected causative mutations using targeted panel sequencing in 30% of patients with steroid-resistant nephrotic syndrome. Panel sequencing has a number of limitations when compared with whole exome sequencing. We employed whole exome sequencing to detect monogenic causes of steroid-resistant nephrotic syndrome in an international cohort of 300 families.

Design, setting, participants, & measurements

Three hundred thirty-five individuals with steroid-resistant nephrotic syndrome from 300 families were recruited from April of 1998 to June of 2016. Age of onset was restric

SUBMITTER: Warejko JK 

PROVIDER: S-EPMC5753307 | biostudies-literature | 2018 Jan

REPOSITORIES: biostudies-literature