A novel mutation of NPHS2 identified in a Chinese family.

Abstract

Since the identification of the NPHS2 gene,which encodes podocin, several groups from European, Middle Eastern, and North American countries have reported NPHS2 mutations in families with steroid-resistant nephrotic syndrome (SRNS) or focal segmental glomerulo sclerosis (FSGS). Families with SRNS have also been reported in China with a population of more than1.3 billion. However, to our knowledge, there is no mutational analysis of the NPHS2 gene in familial SRNS orFSGS in China. We identified a novel mutation of NPHS2(467_468insT and 503G>A) in a Chinese family with autosomal recessive SRNS using polymerase chain re-action, denaturing high-performance liquid chromatography, and DNA sequencing techniques. The results demonstrate that there is also NPHS2 mutation in Chinese familial SRNS. Therefore, Chinese SRNS patients with a familial history of NS should also be screened for possible mutations of NPHS2. We also detected clearly decreased staining with a specific podocin C-terminal antibody(P35) and negative staining with a specific podocin N-terminal antibody (P21). These results were contrary to those predicted from the mutated sites. Further studies are needed to explore the mechanism and impact of the mutant gene on the expression and localization of the relevant protein.