Nineteen novel NPHS1 mutations in a worldwide cohort of patients with congenital nephrotic syndrome (CNS).

ABSTRACT:

Background

Recessive mutations in the NPHS1 gene encoding nephrin account for approximately 40% of infants with congenital nephrotic syndrome (CNS). CNS is defined as steroid-resistant nephrotic syndrome (SRNS) within the first 90 days of life. Currently, more than 119 different mutations of NPHS1 have been published affecting most exons.

Methods

We here performed mutational analysis of NPHS1 in a worldwide cohort of 67 children from 62 different families with CNS.

Results

We found bi-allelic mutations in 36 of the 62 families (58%) confirming in a worldwide cohort that about one-half of CNS is caused by NPHS1 mutations. In 26 families, mutations were homozygous, and in 10, they were compound heterozygous. In an additional nine patients from eight families, only one h

SUBMITTER: Schoeb DS 

PROVIDER: S-EPMC2948833 | biostudies-literature | 2010 Sep

REPOSITORIES: biostudies-literature