ABSTRACT
Objective To analyze the mutations and characteristics of NPHS1 and NPHS2 genes in a child with congenital nephrotic syndrome (CNS). Methods Mutation analysis was made for all exons and exon/intron boundaries of NPHS1 and NPHS2 genes in a child and his parents as well as 50 unrelated adults with normal urine test results as control using PCR and direct sequencing techniques. Results No mutation of NPHS2 gene was detected, while a novel splice site mutation of IVS11+1G>A within intron 11 and a missense mutation within exon 8 (c.928G>A) in NPHS1 gene were detected in the child with CNS. Urinalysis was normal in child's mother, and it was found that c.928G>A (D310N) but no IVS11+1G>A heterozygous mutation, and his father was shown to have a normal urinalysis results, and the result of gene examination was IVS11+1G>A, but without c.928G>A (D310N) heterozygous mutation. All these IVS11+1 G>A and c.928G>A (D310N) mutations were not found in the 50 unrelated controls. Conclusions Two heterozygote mutations IVS11+1 G>A and c.928G>A in the NPHS1 gene have been identified in a child with CNS in the central region of China. The splice site mutation of IVS11+1 G>A is an novel genetic defect of CNS. It is necessary to look for mutations in NPHS1 gene in the children with CNS.