Mutational analysis of NPHS1 gene in children with sporadic steroid-resistant nephrotic syndrome in Southern Chinese Han ethnic group / 中华肾脏病杂志

Objective To elucidate the mutations of NPHS1 gene in children with sporadic steroid-resistant nephrotic syndrome (SRNS) in Southern Chinese Han ethnic group.Methods Peripheral blood samples were collected for genetic analysis from 40 patients with sporadic SRNS and 50 healthy volunteers as control.Genomic DNA was isolated from peripheral blood leucocytes.Twenty-nine exons and exon-intron boundaries of the NPHS1 gene were amplified by polymerase chain reaction.Mutational analysis was performed by DNA sequencing directly.Results Seven variants,928G＞A(D310N),2677A＞G (T893A),2869G＞C (V957L),IVS8+30C＞T,IVS21+14G＞A,IVS25-23C＞T and *142T＞C,of NPHS1 gene were found in 6 of 40 children with sporadic SRNS,whereas they were not found in 50 healthy controls.2677A ＞G,IVS8 +30C ＞T,IVS21 +14G＞A,IVS25-23C ＞T and *142T＞C were novel.Moreover,thirteen already reported NPHS1 polymorphisms,294C＞T,349G＞A,IVS3+15C＞T,IVS3+61A＞G,803G＞A,IVS8+68A＞G,1339G ＞A,1802G ＞C,2223C ＞T,2289C ＞T,IVS24 +36C ＞T,3315G＞A and IVS27 +45C ＞T,were detected in some patients and controls. Conclusions NPHS1 mutations in 6 of 40 children with sporadic SRNS in Southern Chinese Han ethnic group (15％) are detected.NPHS1 mutations are existed in Southern Chinese children,so it is necessary to perform the mutation analysis of NPHS1 gene in those children patients.

Steroid-resistant nephrotic syndrome and CD2AP gene / 国际儿科学杂志

Mutations in CD2AP, mapped to 6pL2. 3 and encoding CD2 - associated protein ( CD2AP), are responsible for autosomal recessive or autosomal dominant steroid - resistant nephrotic syndrome (SRNS). CD2AP plays a key role in the slitdiaphragm network of the kidney, which is necessary for the structure and ultrafiltration functions of the slitdiaphragm. The CD2AP homozygous mutation results in early - onset SRNS while heterozygous expression of the CD2AP mutation has increased susceptibility to glomerular injury.No recurrence of proteinuria was observed in the patient with SRNS with CD2AP homozygousmutationafter the renal transplantation. Therefore, detection of the CD2AP gene in the patients suffering from SRNS will be beneficial to making therapeutic decisions and predicting prognoses.