A clinical overview of WT1 gene mutations.

Little M; Wells C

doi:10.1002/(sici)1098-1004(1997)9:3<209::aid-humu2>3.0.co;2-2

Abstract

Mutations in the WT1 gene were anticipated to explain the genetic basis of the childhood kidney cancer, Wilms tumour (WT). Six years on, we review 100 reports of intragenic WT1 mutations and examine the accompanying clinical phenotypes. While only 5% of sporadic Wilms' tumours have intragenic WT1 mutations, > 90% of patients with the Denys-Drash syndrome (renal nephropathy, gonadal anomaly, predisposition to WT) carry constitutional intragenic WT1 mutations. WT1 mutations have also been reported in juvenile granulosa cell tumour, non-asbestos related mesothelioma, desmoplastic small round cell tumour and, most recently, acute myeloid leukemia.

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References

Articles referenced by this article (118)

A point mutation found in the WT1 gene in a sporadic Wilms' tumor without genitourinary abnormalities is identical with the most frequent point mutation in Denys-Drash syndrome.
Akasaka Y, Kikuchi H, Nagai T, Hiraoka N, Kato S, Hata J
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Mech Dev, (1-2):85-97 1993
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Oncogene, (11):2141-2149 1992
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WT1-related disorders: more than Denys-Drash syndrome.
Lopez-Gonzalez M, Ariceta G
Pediatr Nephrol, 39(9):2601-2609, 07 Feb 2024
Cited by: 1 article | PMID: 38326647
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Single-cell transcriptomes of kidneys in a 6-month-old boy with Denys-Drash syndrome reveal stromal cell heterogeneity in the tumor microenvironment.
Li T, Zhou J, Wu H, Gao X, Shen Q, Cheng R, Zhang M
Clin Kidney J, 17(1):sfad277, 08 Nov 2023
Cited by: 2 articles | PMID: 38223339 | PMCID: PMC10784922
This article is in the Europe PMC Open access subset. Refer to the copyright information in the article for licensing details.
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Appropriate Amounts and Activity of the Wilms' Tumor Suppressor Gene, wt1, Are Required for Normal Pronephros Development of Xenopus Embryos.
Shiraki T, Hayashi T, Ozue J, Watanabe M
J Dev Biol, 10(4):46, 29 Oct 2022
Cited by: 1 article | PMID: 36412640 | PMCID: PMC9680428
This article is in the Europe PMC Open access subset. Refer to the copyright information in the article for licensing details.
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Exonic WT1 pathogenic variants in 46,XY DSD associated with gonadoblastoma.
Arya S, Kumar S, Lila AR, Sarathi V, Memon SS, Barnabas R, Thakkar H, Patil VA, Shah NS, Bandgar TR
Endocr Connect, 10(12):1522-1530, 25 Nov 2021
Cited by: 2 articles | PMID: 34727091 | PMCID: PMC8679883
This article is in the Europe PMC Open access subset. Refer to the copyright information in the article for licensing details.
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Every Beat You Take-The Wilms' Tumor Suppressor WT1 and the Heart.
Wagner N, Wagner KD
Int J Mol Sci, 22(14):7675, 18 Jul 2021
Cited by: 8 articles | PMID: 34299295 | PMCID: PMC8306835
Review
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Catalogue Of Somatic Mutations In Cancer

https://cancer.sanger.ac.uk/cosmic/study/overview?pmid=9090524

Diseases in OMIM

WT1 GENE; WT1(OMIM - 607102)

The Rat Genome Database (RGD) was established in 1999 and rapidly became the premier site for genetic, genomic, phenotype, and disease-related data generated from rat research. In addition, RGD has expanded to include a large body of structured and standardized data for eight species (rat, mouse, human, chinchilla, bonobo, 13-lined ground squirrel, dog and pig). Much of this data is the result of manual curation work by RGD curators. In other instances, it has been imported into RGD from other databases through custom ELT (Extract, Load and Transform) pipelines giving RGD users integrated access to a wide variety of data to support their research efforts. RGD also offers a growing suite of innovative tools for querying, analyzing and visualizing this data making it a valuable resource for researchers worldwide.

https://rgd.mcw.edu/rgdweb/report/reference/main.html?id=11560550

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A clinical overview of WT1 gene mutations.

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References

A point mutation found in the WT1 gene in a sporadic Wilms' tumor without genitourinary abnormalities is identical with the most frequent point mutation in Denys-Drash syndrome.

Homozygous intragenic deletion in the WT1 gene in a sporadic Wilms' tumour associated with high levels of expression of a truncated transcript.

, , , , (1996) A WT1 antisense oligonucleotide inhibits proliferation and induces apoptosis in lyeloid leukemia cell lines. Oncogene (in press).

The expression of the Wilms' tumour gene, WT1, in the developing mammalian embryo.

Identification of mutations in the WT1 gene in tumours from patients with the WAGR syndrome.

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

A novel zinc finger mutation in a patient with Denys-Drash syndrome.

WT1 mutations associated with incomplete Denys-Drash syndrome define a domain predicted to behave in a dominant-negative fashion.

Clonal expansion and attenuated apoptosis in Wilms' tumors are associated with p53 gene mutations.

A suggested nomenclature for designating mutations.

Citations & impact

Impact metrics

Citations of article over time

Article citations

WT1-related disorders: more than Denys-Drash syndrome.

Single-cell transcriptomes of kidneys in a 6-month-old boy with Denys-Drash syndrome reveal stromal cell heterogeneity in the tumor microenvironment.

Appropriate Amounts and Activity of the Wilms' Tumor Suppressor Gene, wt1, Are Required for Normal Pronephros Development of Xenopus Embryos.

Exonic WT1 pathogenic variants in 46,XY DSD associated with gonadoblastoma.

Every Beat You Take-The Wilms' Tumor Suppressor WT1 and the Heart.

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Catalogue Of Somatic Mutations In Cancer

Diseases in OMIM

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WT1 mutations associated with incomplete Denys-Drash syndrome define a domain predicted to behave in a dominant-negative fashion.

Effects of Denys-Drash syndrome point mutations on the DNA binding activity of the Wilms' tumor suppressor protein WT1.

[Hereditary renal tumors: Wilms' tumor--congenital anomalies' syndrome].

Altered trans-activational properties of a mutated WT1 gene product in a WAGR-associated Wilms' tumor.

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WT1 mutations associated with incomplete Denys-Drash syndrome define a domain predicted to behave in a dominant-negative fashion.
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Effects of Denys-Drash syndrome point mutations on the DNA binding activity of the Wilms' tumor suppressor protein WT1.
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[Hereditary renal tumors: Wilms' tumor--congenital anomalies' syndrome].

Altered trans-activational properties of a mutated WT1 gene product in a WAGR-associated Wilms' tumor.
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Search life-sciences literature (45,103,589 articles, preprints and more)

A clinical overview of WT1 gene mutations.

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, , , , (1996) A WT1 antisense oligonucleotide inhibits proliferation and induces apoptosis in lyeloid leukemia cell lines. Oncogene (in press).

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Catalogue Of Somatic Mutations In Cancer

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