Genotype/phenotype correlation in nephrotic syndrome caused by WT1 mutations.

ABSTRACT:

Background and objectives

The risk of developing Wilms tumor (WT) can be present or absent in patients with nephrotic syndrome (NS) caused by WT1 mutations. Here, the genotype/phenotype correlation regarding the outcome and risk for WT in 52 patients from 51 families with NS due to WT1 mutations is described.

Design, setting, participants, & measurements

This study followed 19 patients with mutations in intron 9 splice donor site (KTS mutations), 27 patients with missense mutations, 4 patients with nonsense mutations, 1 patient with a splice site mutation in intron 8, and 1 patient with a deletion.

Results

Twenty-four different WT1 mutations were detected. Sixteen of the 19 patients with KTS mutations were females. These patients had isolated NS if karyotype was 46,XX

SUBMITTER: Chernin G 

PROVIDER: S-EPMC2974408 | biostudies-literature | 2010 Sep

REPOSITORIES: biostudies-literature