title: NPHS2 mutations in children with steroid-resistant nephrotic syndrome.
abstract: BACKGROUND
  Congenital nephrotic syndrome may be caused by mutations in NPHS1 and NPHS2, which encode nephrin and podocin, respectively. Since the identification of the NPHS2 gene, various investigators have demonstrated that its mutation is an important cause of steroid-resistant nephrotic syndrome. We aimed to evaluate frequency and spectrum of podocin mutations in the Iranian children with steroid-resistant nephritic syndrome.
  
  
  METHODS
  We examined 20 children with steroid-resistant nephritic syndrome referred to Ali Asghar Children's Hospital, in Tehran, Iran. Mutations in the 5th and 7th exons of NPHS2 were assessed. The mutational analysis of NPHS2 was performed by DNA sequencing.
  
  
  RESULTS
  The mean age at the onset of proteinuria was 6.4 +/- 3.6 years. None of the children had mutations in the exons 5 or 7.
  
  
  CONCLUSIONS
  Our study suggests that NPHS2 mutations in exons 5 and 7 are not seen in our children. Therefore, we cannot recommend NPHS2 (exons 5 and 7) mutation for screening in Iranian children with steroid-resistant nephritic syndrome. Other exons of podocin or other podocyte proteins in Iranian children may play a role in pathogenesis of steroid-resistant nephritic syndrome.
authors.affiliation: Division of PediatricNephrology, Ali-AsgharChildren's Hospital, IranUniversity of Medical Sciences, Tehran, Iran.
authors.forename: Hasan
authors.initials: H
authors.lastname: Otukesh
authors.forename: Behzad
authors.initials: B
authors.lastname: Ghazanfari
authors.forename: Seyed-Mohammad
authors.initials: SM
authors.lastname: Fereshtehnejad
authors.forename: Masoomeh
authors.initials: M
authors.lastname: Bakhshayesh
authors.forename: Mehrdad
authors.initials: M
authors.lastname: Hashemi
authors.forename: Rozita
authors.initials: R
authors.lastname: Hoseini
authors.forename: Majid
authors.initials: M
authors.lastname: Chalian
authors.forename: Arezoo
authors.initials: A
authors.lastname: Salami
authors.forename: Leila
authors.initials: L
authors.lastname: Mehdipor
authors.forename: Aysan
authors.initials: A
authors.lastname: Rahiminia
mesh_terms: D002648:Child; D002675:Child, Preschool; D004351:Drug Resistance; D005091:Exons; D005260:Female; D005938:Glucocorticoids / Q000494:pharmacology*; D006801:Humans; D007223:Infant; D047908:Intracellular Signaling Peptides and Proteins / Q000235:genetics*; D007492:Iran; D008297:Male; D008565:Membrane Proteins / Q000235:genetics*; D009154:Mutation; D009404:Nephrotic Syndrome / Q000188:drug therapy* / Q000235:genetics*; D011446:Prospective Studies; D017422:Sequence Analysis, DNA
chemical_list: D005938:Glucocorticoids; D047908:Intracellular Signaling Peptides and Proteins; D008565:Membrane Proteins; C407223:NPHS2 protein