Molecular study of genes associated with steroid-resistant nephrotic syndrome

Abstract

Nephrotic syndrome (NS) is defined by heavy proteinuria, hypoalbuminemia, edema and hyperlipidemia. Recent advances in molecular genetics have identified single-gene causes of SRNS in more than 50 genes that encodes for structures of the glomerular filtration barrier (GFB).The aim of this study was the analysis of three variants previously identified by our group by whole exome sequencing (WES): the screening of c.459C>G (ACTN4) in 144 healthy controls and the validation by Sanger sequencing of the c.883_885dupTCT (ANLN) and c.3322A>C (LAMB2) variants.