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Article

Germline mutations in the Wilms' tumor suppressor gene are associated with abnormal urogenital development in Denys-Drash syndrome.

Cell - 18 Oct 1991

Pelletier J, Bruening W, Kashtan C E, Mauer S M, Manivel J C, Striegel J E, Houghton D C, Junien C, Habib R, Fouser L

Abstract excerpt

Denys-Drash syndrome is a rare human condition in which severe urogenital aberrations result in renal failure, pseudohermaphroditism, and Wilms' tumor (nephroblastoma). To investigate its possible role, we have analyzed the coding exons of the Wilms' tumor suppressor gene (WT1) for germline mutations. In ten independent cases of Denys-Drash syndrome, point mutations in the zinc finger domains of one WT1 gene copy...

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PMID: 1655284
DOI: 10.1016/0092-8674(91)90194-4

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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.

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Germline mutations in the Wilms' tumor suppressor gene are associated with abnormal urogenital development in Denys-Drash syndrome.PMID 1655284Read ↗

Germline intronic and exonic mutations in the Wilms' tumour gene (WT1) affecting urogenital development.Semantic proximity Read ↗

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

Novel WT1 mutation (C388Y) in a female child 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 ↗

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

An unusual phenotype of Frasier syndrome due to IVS9 +4C>T mutation in the WT1 gene: predominantly male ambiguous genitalia and absence of gonadal dysgenesis.Semantic proximity Read ↗

Identification of constitutional WT1 mutations, in patients with isolated diffuse mesangial sclerosis, and analysis of genotype/phenotype correlations by use of a computerized mutation database.Semantic proximity Read ↗

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

Constitutional mutations in the WT1 gene in patients with Denys-Drash syndrome.Semantic proximity Read ↗

The role of WT1 in Wilms tumorigenesis.Semantic proximity Read ↗

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

The same mutation affecting the splicing of WT1 gene is present on Frasier syndrome patients with or without Wilms' tumor.Semantic proximity Read ↗

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