Effect of combined NPHS2 and ACTN4 variants in the onset and severity of focal segmental glomerulosclerosis

Introduction: Focal segmental glomerulosclerosis (FSGS) can be caused by mutations in the genes NPHS2, ACTN4, TRPC6, and INF2 among others, presenting variable levels of proteinuria, including nephrotic syndrome, that frequently progress to end-stage renal disease (ESRD). The establishment genotype-phenotype correlation expressed podocyte could contribute understanding their role FSGS decision-making clinical setting similar cases. Methods: Genomic DNA was extracted from peripheral blood proband, his brother, sister mother. All exons were amplified a polymerase chain reaction, purified, sequenced Sanger method. presence variants evaluated proband with relatives, reviewed, annotated using dbSNP HGMD. Results: In evaluation, brother presented childhood-onset added biopsies confirming FSGS, which resistant steroid other immunosuppressive drugs, progressed ESRD. Both patients showed p.P316S NPHS2 p.G894S as well polymorphism p.R229Q all heterozygosis. Their parents healthy, mother only variant Conclusions: family members had combination shared presentation, syndrome onset late childhood rapidly