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

Indian Pediatr. 2012 Mar;49(3):231-3. doi: 10.1007/s13312-012-0057-x. Epub 2011 Nov 1.

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.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Child
  • Child, Preschool
  • Cohort Studies
  • Female
  • Humans
  • India
  • Infant
  • Intracellular Signaling Peptides and Proteins / genetics*
  • Male
  • Membrane Proteins / genetics*
  • Nephrotic Syndrome / congenital*
  • Nephrotic Syndrome / genetics
  • Polymorphism, Single Nucleotide

Substances

  • Intracellular Signaling Peptides and Proteins
  • Membrane Proteins
  • NPHS2 protein

Supplementary concepts

  • Nephrotic syndrome, idiopathic, steroid-resistant