Whole Exome Sequencing of Patients with Steroid-Resistant Nephrotic Syndrome

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Warejko J. K., Tan W., Daga A., Schapiro D., Lawson J. A., Shril S., ...More

CLINICAL JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY, vol.13, no.1, pp.53-62, 2018 (SCI-Expanded) identifier identifier identifier


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.