Genetic analysis of glomerular podocyte molecules in children with nephrotic syndrome

点击翻译按钮获取中文摘要

Podocin is an integral membrane protein encodedby NPHS2, which is mapped to 1q25-31 and exclusively expressed in glomerular podocytes. NPHS2 mutations are responsible for autosomal recessive familial steroid-resistant nephrotic syndrome (SRNS). It has been demonstrated that sporadic SRNS and steroid-sensitive nephrotic syndrome. We isolated genomic DNA from 26 Japanese children with steroid-resistant nephrotic syndrome and 45 Japanese children with steroid-sensitive nephrotic syndrome. We analyzed all eight exons of NPHS2 using the polymerase chain reaction and direct sequencing. Four silent variants (102G>A, 288C>T, 954T>C, 1038A>G) were identified in some of the patients and normal controls, indicating that the silent variants are polymorphisms. There was nosignificant difference in the genotypic and allelic frequencies of these 4 polymorphisms between the patients and normal controls and between the steroid-resistant and steroid-sensitive patients. In conclusion, NPHS2 gene mutations are not a major cause of nephrotic syndrome in Japanese children.