Variability in phenotype induced by the podocin variant R229Q plus a single pathogenic mutation.

ABSTRACT:

Background

Mutations in podocin (NPHS2) are the most common cause of childhood onset autosomal recessive steroid-resistant nephrotic syndrome (SRNS). The disease is characterized by early-onset proteinuria, resistance to immunosuppressive therapy and rapid progression to end-stage renal disease. Compound heterozygous changes involving the podocin variant R229Q combined with another pathogenic mutation have been associated with a mild phenotype with disease onset often in adulthood.

Methods

We screened 19 families with early-onset SRNS for mutations in NPHS2 and WT1 and identified four disease-causing mutations (three in NPHS2 and one in WT1) prior to planned whole-exome sequencing.

Results

We describe two families with three individuals presenting in childhood who are

SUBMITTER: Phelan PJ 

PROVIDER: S-EPMC4581382 | biostudies-literature | 2015 Oct

REPOSITORIES: biostudies-literature