Thirteen novel NPHS1 mutations in a large cohort of children with congenital nephrotic syndrome.

ABSTRACT:

Background

Congenital nephrotic syndrome (CNS) is de- fined as nephrotic syndrome that manifests at birth or within the first 3 months of life. Most patients develop end-stage renal disease (ESRD) within 2 to 3 years of life. CNS of the Finnish-type (CNF) features a rather specific renal histology and is caused by recessive mutations in the NPHS1 gene encoding nephrin, a major structural protein of the glomerular slit-diaphragm. So far, more than 80 different mutations of NPHS1 causing CNF have been published.

Methods

Here, we performed mutation analysis of NPHS1 by exon sequencing in a worldwide cohort of 32 children with CNS from 29 different families.

Results

Sixteen of the 29 families (55%) were found to have two disease-causing alleles in NPHS1. Two additional pa

SUBMITTER: Heeringa SF 

PROVIDER: S-EPMC2720813 | biostudies-literature | 2008 Nov

REPOSITORIES: biostudies-literature