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Saudi Journal of Kidney Diseases and Transplantation
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CASE REPORT Table of Contents   
Year : 2014  |  Volume : 25  |  Issue : 4  |  Page : 854-857
mRNA sequencing of a novel NPHS2 intronic mutation in a child with focal and segmental glomerulosclerosis

1 Pediatric Nephrology, Dialysis and Transplant Unit, Department of Pediatrics, University of Padua, Padua, Italy
2 Laboratory of Pathophysiology of Uremia, Istituto Giannina Gaslini, Genoa, Italy
3 Laboratory of Immunopathology and Molecular Biology of the Kidney, Department of Pediatrics, A.O.-University of Padua, Padua, Italy

Correspondence Address:
Elisa Benetti
Pediatric Nephrology, Dialysis and Transplant Unit, Department of Pediatrics, University of Padua, Padua
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DOI: 10.4103/1319-2442.135180

PMID: 24969201

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The NPHS2 gene encodes podocin, a membrane protein that acts as the structural scaffold in podocyte foot processes. NPHS2 mutations are associated with steroid-resistant neph-rotic syndrome (SRNS), with the pathologic variant being focal and segmental glomerulosclerosis (FSGS), an emerging cause of end-stage renal disease in children. We describe a novel NPHS2 sequence variant in a girl with SRNS. Onset occurred at the age of seven years, with edema, hypo-proteinemia, hypoalbuminemia, hypercholesterolemia, hypertriglyceridemia and nephrotic protei-nuria. Renal function was normal and autoimmunity markers were negative. Proteinuria failed to decrease after standard steroid therapy. Renal biopsy showed FSGS. Cyclosporine therapy was instituted, but no remission of proteinuria was achieved and chronic renal failure developed. Mole­cular analysis of the NPHS2 gene revealed a homozygous nucleotide substitution in position c.451+3A>T in intron 3-4. This nucleotide substitution has not been reported in the literature till date. The effect of the detected substitution on podocin protein was demonstrated by renal biopsy RNA extraction and cDNA amplification analysis. This technique had never been applied to a NPHS2 mutation. Based on these results, immunosuppressive drugs were discontinued and conser­vative therapy was undertaken.

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