Indian Pediatrics

, Volume 49, Issue 3, pp 231–233 | Cite as

NPHS2 mutations in Indian children with sporadic early steroid resistant nephrotic syndrome

  • Anil Vasudevan
  • Annes Siji
  • Ashwini Raghavendra
  • T S Sridhar
  • Kishore D. Phadke
Research Brief

Abstract

We examined the frequency and spectrum of podocin NPHS2 mutations in Indian children with sporadic steroid resistant nephrotic syndrome (SRNS). Of 25 children screened, only one (4%) had a pathogenic mutation resulting in a stop codon. The allele and genotype frequencies of the four known single nucleotide polymorphisms detected in the cohort were similar to that of controls. This finding emphasizes the need to screen for mutations in other genes involved in the pathogenesis of SRNS.

Key words

India Nephrotic syndrome Podocin Steroid resistance 

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Copyright information

© Indian Academy of Pediatrics 2012

Authors and Affiliations

  • Anil Vasudevan
    • 1
    • 2
    • 3
  • Annes Siji
    • 2
  • Ashwini Raghavendra
    • 2
  • T S Sridhar
    • 2
  • Kishore D. Phadke
    • 1
  1. 1.Children’s Kidney Care Centre, St John Medical College HospitalSt John’s Research InstituteJohn NagarIndia
  2. 2.Division of Molecular MedicineSt John’s Research InstituteJohn NagarIndia
  3. 3.Children’s Kidney Care CentreSt John Medical College HospitalKoramangalaIndia

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