Clinical and molecular characterization of patients with heterozygous mutations in wilms tumor suppressor gene 1.

ABSTRACT:

Background and objectives

The Wilms tumor suppressor gene 1 (WT1) plays an essential role in urogenital and kidney development. Genotype/phenotype correlations of WT1 mutations with renal function and proteinuria have been observed in world-wide cohorts with nephrotic syndrome or Wilms tumor (WT). This study analyzed mid-European patients with known constitutional heterozygous mutations in WT1, including patients without proteinuria or WT.

Design, setting, participants & measurements

Retrospective analysis of genotype, phenotype, and treatment of 53 patients with WT1 mutation from all pediatric nephrology centers in Germany, Austria, and Switzerland performed from 2010 to 2012.

Results

Median age was 12.4 (interquartile range [IQR], 6-19) years. Forty-four of 53 (83%)

SUBMITTER: Lehnhardt A 

PROVIDER: S-EPMC4422247 | biostudies-literature | 2015 May

REPOSITORIES: biostudies-literature