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Article

Inherited WT1 mutation in Denys-Drash syndrome.

Cancer research - 1 Nov 1992

Coppes M J, Liefers G J, Higuchi M, Zinn A B, Balfe J W, Williams B R

Abstract excerpt

Patients with the Denys-Drash syndrome (Wilms' tumor, genital anomalies, and nephropathy) have been demonstrated to carry de novo constitutional mutations in WT1, the Wilms' tumor gene at chromosome 11p13. We report three new cases, two carrying a previously described WT1 exon 9 mutation and one with a novel WT1 exon 8 mutation. However, unlike patients in previous reports, one of our three patients inherited the...

Topics

Adolescent
Amino Acid Sequence
Child
Chromosomes, Human, Pair 11
Exons
Female
Genes, Wilms Tumor
Genitalia, Female
Genitalia, Male
Humans
Kidney Diseases
Kidney Neoplasms

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Male

Molecular Sequence Data

Mutation

Syndrome

Wilms Tumor

Source

Identifiers

PMID: 1327525

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 29 Aug 2026. Prepared record publication-1327525-2026-08-29.1. Manifest publication-graph-cohort-2026-08-29.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 29 Aug 2026.

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Inherited WT1 mutation in Denys-Drash syndrome.PMID 1327525Read ↗

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

Frasier syndrome, part of the Denys Drash continuum or simply a WT1 gene associated disorder of intersex and nephropathy?Semantic proximity Read ↗

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

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

Atypical clinical presentation of a WT1-related syndrome associated with a novel exon 6 gene mutation.Semantic proximity Read ↗

Do intronic mutations affecting splicing of WT1 exon 9 cause Frasier syndrome?Semantic proximity Read ↗

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

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

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

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