Novel variations in NPHS1 gene in children of South Indian population and its association with primary nephrotic syndrome.

Mutations in NPHS1 can lead to disruption of the filtration barrier and cause proteinuria in nephrotic syndrome (NS). The aim of the study was to evaluate NPHS1 mutations, its susceptibility to the disease, and their association in children with steroid-resistant NS; mutation frequency of 9% was observed in patients with steroid-resistant NS, of which, six mutations and two single-nucleotide polymorphisms observed in the study population were found to be novel.