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Article

A WT1 exon 1 mutation in a child diagnosed with Denys-Drash syndrome.

Pediatric nephrology (Berlin, Germany) - 1 Jan 2005

Little Suzanne, Hanks Sandra, King-Underwood Linda, Picton Sue, Cullinane Catherine, Rapley Elizabeth, Rahman Nazneen, Pritchard-Jones Kathy

Abstract excerpt

Denys-Drash syndrome (DDS) is characterized by nephropathy, genital abnormalities, and predisposition to Wilms tumor. DDS is associated with constitutional WT1 mutations, the majority being missense mutations in the zinc-finger region. A dominant-negative mode of action of the mutant DDS proteins is thought to explain the more severe genitourinary phenotype seen in DDS compared with children with complete...

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Identifiers

PMID: 15503171
DOI: 10.1007/s00467-004-1649-z

Genes

WT1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence. Graph snapshot: 2026-09-29.

Research trail→

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A WT1 exon 1 mutation in a child diagnosed with Denys-Drash syndrome.PMID 15503171Read ↗

Novel WT1 mutation (C388Y) in a female child with Denys-Drash syndrome.Semantic proximity Read ↗

A familial WT1 mutation associated with incomplete Denys-Drash syndrome.Semantic proximity Read ↗

Clinical pictures and novel mutations of WT1-associated Denys-Drash syndrome in two Chinese children.Semantic proximity Read ↗

A zinc finger truncation of murine WT1 results in the characteristic urogenital abnormalities of Denys-Drash syndrome.Semantic proximity Read ↗

WT1 Haploinsufficiency Supports Milder Renal Manifestation in Two Patients with Denys-Drash Syndrome.Semantic proximity Read ↗

Evidence that WT1 mutations in Denys-Drash syndrome patients may act in a dominant-negative fashion.Semantic proximity Read ↗

Two N-terminal self-association domains are required for the dominant negative transcriptional activity of WT1 Denys-Drash mutant proteins.Semantic proximity Read ↗

Denys-Drash syndrome associated WT1 glutamine 369 mutants have altered sequence-preferences and altered responses to epigenetic modifications.Semantic proximity Read ↗

WT1 mutations in patients with Denys-Drash syndrome: a novel mutation in exon 8 and paternal allele origin.Semantic proximity Read ↗

Case report: WT1 exon 6 truncation mutation and ambiguous genitalia in a patient with Denys-Drash syndrome.Semantic proximity Read ↗

A novel WT1 gene mutation in a chinese girl with denys-drash syndrome.Semantic proximity Read ↗

WT1 Pathogenic Variants are Associated with a Broad Spectrum of Differences in Sex Development Phenotypes and Heterogeneous Progression of Renal Disease.Semantic proximity Read ↗

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