Genotype-Phenotype Correlations in Denys-Drash Syndrome in Children.

ABSTRACT:

Introduction

Denys-Drash syndrome (DDS) is a rare disease typically associated with a triad of early onset nephrotic syndromes (NS), susceptibility to Wilms tumor (WT), and genitourinary structural defects. DDS is caused by Wilms' tumor suppression gene (WT1) variants, with the most frequent variants in exons 8 and 9. This study aimed to evaluate the long-term clinical outcomes and genotype-to-phenotype correlations in a large, multicenter cohort of children with typical DDS.

Methods

We conducted a national retrospective study of all children diagnosed with a pathogenic variant in WT1 exons 8 or 9 in France between 2000 and 2022.

Results

Fifty-eight children with DDS and variants in exons 8 (n = 23) and 9 (n = 35) of the WT1 gene wer

SUBMITTER: Glenisson M 

PROVIDER: S-EPMC12034853 | biostudies-literature | 2025 Apr

REPOSITORIES: biostudies-literature