NPHS1 gene mutations in children with Nephrotic Syndrome in northwest Iran

Idiopathic Nephrotic Syndrome (NS) is the prevalent glomerular disease in childhood. It is treated with steroid and according to its response is defined as steroid sensitive NS (SSNS) and steroid resistance NS (SRNS). Mutation in NPHS 1 gene is reported in children with SRNS and few cases of SSNS. The aim of current study is to evaluate NPHS1 gene mutations in idiopathic NS (SSNS and SSRS) in Northwest Iran. In this cross-sectional analytic study 20 children from Azeri population in Iran with idiopathic NS including 10 cases with SRNS (5 male and 5 female) and 10 cases with SSNS (7 male and 3 female) were evaluated for NPHS1 gene mutations. DNA was extracted from peripheral blood and NPHSI gene analysis was performed by PCR and direct sequencing method with the use of standard primers. Mutations in NPHS1 gene occurred in 6 cases of SSNS including 3 heterozygous and 3 homozygous mutations and in 8 cases of SRNS including 5 homozygous, one compound heterozygous and 2 heterozygous mutations. Overall 6 different mutations were detected in NPHS1 gene: one deletion, one insertion, 3 missense and one nonsense mutations. Mutations in exon 4 and 27 were only seen in SRNS patients. Mutations in NPHS1 gene could occur in both SRNS and SSNS patients; however, considering higher incidence of heterozygous mutations in SSNS, the existence of milder phenotype in these cases would be the reason for steroid response.