01Jan 2019


  • MD, ph.d in molecular pathology,college of medicine / al-nahrain university.
  • M. B. Ch. B, c.a.b.p, professor in pediatrics ,department of pediatrics ,college of medicine, Al - nahrain university, al ? kadhymia, p.o. Box 70074, baghdad ? iraq.
  • M. B. Ch. B, c.a.b.p, pediatric nephrology, al imamein kadhimein medical city.
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Introduction: The aim of this study was to determine the frequency of the A>C polymorphism at site 637 of exon 8 of NPHS2 and to assess the association of this SNP with demographic, clinical and laboratory data. Patients and methods: This cross-sectional study was conducted in Al-Imamein Al-Kadhimein Medical City and Al-Nahrain College of Medicine from the 1st of August, 2016, to the 30th of November, 2016. Demographic data were collected from each patient, and some laboratory results were recorded. From each patient, 3 ml of venous blood was collected for molecular analysis. Results: A total of 50 children with NS were divided into 24 patients with SSNS and 26 patients with SRNS. Genetic analysis detected the mutated allele in 50 (100%) of the cases. The wild-type allele was detected in 3 (6%) cases: 2 (8.3%) cases of SSNS and 1 (3.8%) case of SRNS. The homozygous mutated genotype was observed in 47 cases, distributed into 22 (91.7%) SSNS and 25 (96.2%) SRNS cases. The heterozygous mutated genotype was observed in 3 cases, distributed into 2 (8.3%) SSNS cases and 1 (3.8%) SRNS case. Our results showed no association of this polymorphism with any of the demographic, clinical or laboratory data for either the homozygous or heterozygous patients. Conclusion: SNP 637 A>C in NPHS2 exon 8 was present in all cases and both groups.

  1. Obeidova H, Merta M, Reiterov? J, Maixnerov? D, Stekrov? J, Rysav? R, Tesar V. Genetic basis of nephrotic syndrome-review. Prague Med Rep. 2006; 107(1): 5-16.
  2. Franceschini N, North KE, Kopp JB, McKenzie L, Winkler C. NPHS2 gene, nephrotic syndrome and focal segmental glomerulosclerosis: a HuGE review. Genet Med. 2006; 8: 63-75.
  3. Boute N, Gribouval O, Roselli S, Benessy F, Lee H, Fuchshuber A, Dahan K, Gubler MC, Niaudet P, Antignac C. NPHS2, encoding the glomerular protein podocin, is mutated in autosomal recessive steroid-resistant nephrotic syndrome. Nat Genet.2002; 24: 349-354.
  4. Chernin G., Saskia F. Heeringa et al; Low prevalence of NPHS2 mutations in African American children with steroid-resistant nephritic syndrome; PediatrNephrol (2008) 23:1455?1460.
  5. Di Duca M, Oleggini R, Sanna-Cherchi S, Pasquali L, Di Donato A, Parodi S, Bertelli R, Caridi G, Frasca G, Cerullo G, Amoroso A, Schena FP, Scolari F, Ghiggeri GM, European IgA Nephropathy Consortium. Cis and trans regulatory elements in NPHS2 promoter: implications in proteinuria and progression of renal diseases. Kidney Int. 2006; 70(7):1332-1341.
  6. Niaudet and O. Boyer, ?Idiopathic nephrotic syndrome in children:clinicalaspects,?inPediatricNephrology,E.D.Avner, W. E. Harmon, P. Niaudet, N. Yoshikawa, F. Emma, and L. S. Goldstein, Eds., pp. 839?869, Lippincott Williams & amp; Wilkins,Philadelphia,Pa,USA,7thedition,2016.
  7. Floege and J. Feehally, ?Introduction to glome-rular disease: clinicalpresentations,?inComprehensiveClinicalNephrology,R. J. Johnson, J. Feehally, and Floege J., Eds., pp. 184?197, Mosby, Philadelphia,Pa,USA,5thedition,2015.
  8. SharmaandA.Vasudevan,?Normalreferencevaluesofblood and urine chemistries,? in Manual of Pediatric Nephrology, K.Phadke,P.Goodyer,andM.Bitzan,Eds.,pp.533?610,Springer, London,UK,2014.
  9. Kumar J, Culati S, Sharma P, Sharma RK. Histopathologial spectrum of childhood nephrotic syndrome in Indian children.PediatrNephrol. 2003; 18: 660-675.
  10. Madani AB. Clinicopathologic and drug response in children with idiopathic nephrotic syndrome in pediatric medical center. J Tehran University Med Sci. 2003; 1: 71-79.AB.
  11. Rachmadi D, Melani A, Monnens A, et al; NPHS2 Gene Mutation and Polymorphisms in Indonesian Children with Steroid-Resistant Nephrotic Syndrome. Open Journal of Pediatrics, 2015, 5, 27-33.
  12. Gbadegesin R, Bartkowiak B, Lavin PJ, Mukerji N, Wu G, Bowling B, Eckel J, Damodaran T, Winn MP. Exclusion of homozygous PLCE1 (NPHS3) mutations in 69 families with idiopathic and hereditary FSGS.PediatrNephrol. 2009; 24: 281-285.
  13. Koziell A, Grech V, Hussain S, Lee G, Lenkkeri U, Tryggvason K, Scambler P. Genotype/phenotype correlations of NPHS1 and NPHS2 mutations in nephrotic syndrome advocate a functional inter-relationship in glomerular filtration. Hum Mol Genet 2002; 11: 379-388.
  14. Mao J, Zhang Y, Du L, Dai Y, Gu W, Liu A, Shang S, Liang L. NPHS1 and NPHS2 gene mutations in Chinese children with sporadic nephrotic syndrome. Pediatr Res. 2007; 61(1): 117-122.
  15. Weber S, Gribouval O, Esquivel EL, Moriniere V, Tete MJ, Legendre C, Niaudet P, Antignac C. NPHS2 mutation analysis shows genetic heterogeneity of steroid-resistant nephrotic syndrome and low post-transplant recurrence. Kidney Int. 2004; 66: 571?579.
  16. Guaragna MS, Lutaif AC, Piveta CS, Souza ML, de Souza SR, Henriques TB, Maciel-Guerra AT, Belangero VM, Guerra-Junior G, De Mello MP. NPHS2 mutations account for only 15 % of nephrotic syndrome cases. BMC Med Genet.2015; 16: 88.doi: 10.1186/s12881-015-0231-9.
  17. Tory K, Menyh?rd DK, Woerner S, Nevo F, Gribouval O, Kerti A, Str?ner P, Arrondel C, Huynh Cong E, Tulassay T, Mollet G, Perczel A, Antignac C. Mutation-dependent recessive inheritance of NPHS2-associated steroid-resistant nephrotic syndrome. Nat Genet. 2014; 46(3): 299-304.

[Ban A. Abdulmajeed, Shatha Hussain Ali and Sally Ahmed Kadhim. (2019); ADENINE-TO-CYTOSINE 637 SINGLE NUCLEOTIDE POLYMORPHISM OF NPHS2 EXON 8 IN NEPHROTIC SYNDROME. Int. J. of Adv. Res. 7 (1). 01-06] (ISSN 2320-5407). www.journalijar.com

Dr. Shatha Hussain Ali
Ph.D in Molecular pathology , College of Medicine ,Al-Nahrain University.


Article DOI: 10.21474/IJAR01/8289       DOI URL: http://dx.doi.org/10.21474/IJAR01/8289

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