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

Human mutation - 1 Jan 1999

Barbosa A S, Hadjiathanasiou C G, Theodoridis C, Papathanasiou A, Tar A, Merksz M, Györvári B, Sultan C, Dumas R, Jaubert F, Niaudet P, Moreira-Filho C A, Cotinot C, Fellous M

Abstract excerpt

Denys-Drash and Frasier syndromes are rare human disorders that associate nephropathy with gonadal and genital abnormalities. In DDS there is a predisposition to Wilms' tumor. Heterozygous point mutations in the Wilms' tumor, type1 gene (WT1), particularly those altering the zinc finger (ZF) encoding exons, have been reported in most DDS patients, while mutations in intron 9 of the same gene cause FS. This paper...

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Source

Identifiers

PMID: 10094551
DOI: 10.1002/(SICI)1098-1004(1999)13:2<146::AID-HUMU7>3.0.CO;2-I

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CGA

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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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The same mutation affecting the splicing of WT1 gene is present on Frasier syndrome patients with or without Wilms' tumor.PMID 10094551Read ↗

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

Donor splice-site mutations in WT1 are responsible for Frasier 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 ↗

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

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

Frasier syndrome: a cause of focal segmental glomerulosclerosis in a 46,XX female.Semantic proximity Read ↗

Two distinct WT1 mutations identified in patients and relatives with isolated nephrotic proteinuria.Semantic proximity Read ↗

Frasier syndrome is caused by defective alternative splicing of WT1 leading to an altered ratio of WT1 +/-KTS splice isoformsSemantic 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 ↗

Mother-to-child transmitted WT1 splice-site mutation is responsible for distinct glomerular diseases.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 ↗

A female infant with Frasier syndrome showing splice site mutation in Wilms' tumor gene (WT1) intron 9.Semantic proximity Read ↗

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