Analysis of NPHS2 Gene Mutations in Egyptian Children with Nephrotic Syndrome.

ABSTRACT: BACKGROUND:Mutations in the NPHS2 genes are the main aetiology of early-onset and familial steroid-resistant nephrotic syndrome (SRNS). The pathogenic NPHS2 mutation together with the p.R229Q variant has been less described among Egyptian children. AIM:This study aims to determine the mutation of NPHS2 in children with NS and discover the role of p.R229Q variant in SRNS. METHODS:The study included 53 children with NS, and 53 healthy volunteers matched in age and sex controls. The median age at disease onset was 7.3 years. Among NS cases, 31 cases had steroid-sensitive nephrotic syndrome (SSNS) and 22 children with steroid-resistant nephrotic syndrome (SRNS). Polymerase chain reaction amplification of the whole coding region of NPHS2 gene was carried out for its mutational analysis. Restric

SUBMITTER: Zaki M 

PROVIDER: S-EPMC6953933 | biostudies-literature | 2019 Oct

REPOSITORIES: biostudies-literature