NPHS2 and CD2AP gene mutation in children with primary steroid-resistant nephrotic syndrome in Guangdong province

Abstract

Objective To study NPHS2 and CD2AP gene mutation with primary steroid-resistant nephrotic syndrome (SRNS) children in Guangdong province, and to investigate the relationship between NPHS2, CD2AP gene mutation and SRNS, so as to provide a theoretical basis for the diagnosis and treatment of SRNS in children. Methods Twenty-six SRNS children and 20 cases of the healthy children as controls were chosen randomly in Guangdong pro-vince.Genomic DNA was isolated from peripheral blood leucocytes of these patients and the healthy children.Mutational analysis was performed in 8 exons of NPHS2 gene and 18 exons of CD2AP gene after sequencing directly.The results were compared with United States National Center for Biotechnology Information(NCBI) gene database, the detected gene mutation. Results The variation analysis revealed 3 polymorphisms (288C>T, 954T>C, 1038A>G) in 14 cases out of 26 patients and 4 cases of the healthy children studied, which had been reported before, but there was no significant difference in the genotypic and allelic frequencies of these polymorphisms between the patients and the controls(all P>0.05). One CD2AP heterozygous mutation(1917+ 20 C>G) was detected in intron in 2 cases of SRNS children. Conclusions NPHS2 gene variation may not be the main mechanism of SRNS in Guangdong province.CD2AP gene mutation may increase the possibility of SRNS and focal segmental glomerulosclerosis in children.CD2AP mutation in intron may involve in the pathogenesis of SRNS. Key words: Steroid-resistant nephrotic syndrome; NPHS2 gene; CD2AP gene