Mutation analysis of NPHS1 in a worldwide cohort of congenital nephrotic syndrome patients.

ABSTRACT:

Background

Congenital nephrotic syndrome (CNS) is defined as nephrotic syndrome that manifests within the first 3 months of life. Mutations in the NPHS1 gene encoding nephrin, are a major cause for CNS. Currently, more than 173 different mutations of NPHS1 have been published as causing CNS, affecting most exons.

Methods

We performed mutation analysis of NPHS1 in a worldwide cohort of 20 families (23 children) with CNS. All 29 exons of the NPHS1 gene were examined using direct sequencing. New mutations were confirmed by demonstrating their absence in 96 healthy control individuals.

Results

We detected disease-causing mutations in 9 of 20 families (45%). Seven of the families showed a homozygous mutation, while two were compound heterozygous. In another 2 families, sin

SUBMITTER: Ovunc B 

PROVIDER: S-EPMC5593135 | biostudies-literature | 2012

REPOSITORIES: biostudies-literature