In Silico Analysis of NPHS1 Gene Mutations Identified in Patients with Steroid Resistant Nephrotic Syndrome

Abstract

Introduction: Steroid Resistant Nephrotic syndrome (SRNS) is a rare autosomal recessive kidney disorder caused by increased permeability of the glomerular capillary wall for macromolecules leading to heavy proteinuria, hypoproteinemia and edema. SRNS patients do not respond to steroid therapy and have a poor prognosis with high risk of end-stage renal failure. SRNS is caused by the genetic defects in podocyte expressed proteins which do not lead to recurrence after renal transplantation. To date several mutations in podocyte genes, NPHS1&2 have been associated as an underlying genetic factor. Here we investigated the pathogenic effects of the NPHS1 gene mutations reported in Pakistani patients.