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.