NPHS2 gene sequencing results in children of the Azerbaijani population with different types of nephrotic syndrome caused by chronic glomerulonephritis

Abstract

OBJECTIVES: The aim of the study was to determine the mutation of the podocin gene (NPHS2) in children with minimal changes diseases (steroid sensitive nephrotic syndrome (NS)) and steroid resistant NS. BACKGROUND: Despite the fact that the role of genetic factors is a well-known phenomenon, in NS there are still unknown aspects that are yet to be discovered. NS, type 2 is caused by NPHS2 gene and is characterised with proteinuria, minimal change disease on renal biopsy, poor response to steroid treatment, etc. METHODS: Twenty-nine children (65.5 % male, 34.5 % female) with nephrotic syndrome caused by chronic glomerulonephritis were examined and patients were tested for NPHS2 gene with Sanger technique. RESULTS: The average age was 7.2 ± 2.65 years. 82.8 % of patients had NS with minimal changes, 17.2 % had a steroid resistant NS. The analysis of the NPHS2 gene revealed a likely pathogenic (Arg168His), uncertain signifi cance (Pro20Ley, Leu169Pro, Val180Met, Arg229Gln, Val290Met) and benign (Gly34Gly, Ala318Ala) variants. No novel variants were detected. CONCLUSION: This is the fi rst study investigating the nephrotic syndrome related to NPHS2 gene in Azerbaijani population. The high prevalence of uncertain signifi cance variants emphasises the importance of population studies in this region as such data are necessary for classifi cations of the detected genetic variants (Tab. 1, Ref. 25). Text in PDF www.elis.sk.

Analysis of the association of NPHS2 and ACTN4 genes polymorphism with nephrotic syndrome in Egyptian children

“…It encodes podocin, a member of the family Stomatin protein with 383 amino acids that is produced by visceral glomerular epithelial (podocytes) [10] [11]. More than 25 polymorphic variations and 100 harmful mutations have been found in the NPHS2 gene, exist among the gene and includes missense, deletion, and nonsense mutations [12], [13]. The ACTN4 gene was mapped to chromosome 19q13.2 and encodes for "α-actinin-4 protein, an actin-bundling protein of the cytoskeleton which is expressed widely throughout the body but enriched in the kidney podocytes [14].…”

Analysis of the association of NPHS2 and ACTN4 genes polymorphism with nephrotic syndrome in Egyptian children

“…It encodes podocin, a member of the family Stomatin protein with 383 amino acids that is produced by visceral glomerular epithelial (podocytes) [ 7 , 8 ] . More than 25 polymorphic variations and 100 harmful mutations have been found in the NPHS2 gene, exist among the gene and includes missense, deletion, and nonsense mutations [ 9 , 10 ] . The ACTN4 gene was mapped to chromosome 19q13.2 and encodes for "α-actinin-4 protein, an actin-bundling protein of the cytoskeleton which is expressed widely throughout the body but enriched in the kidney podocytes [ 11 ] .…”