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Article

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

Journal of the American Society of Nephrology : JASN - 1 Oct 1999

Denamur E, Bocquet N, Mougenot B, Da Silva F, Martinat L, Loirat C, Elion J, Bensman A, Ronco P M

Abstract excerpt

Mutations in the Wilms' tumor suppressor gene (WT1) are linked with Denys-Drash syndrome (DDS), a rare childhood disease characterized by diffuse mesangial sclerosis and renal failure of early onset, XY pseudohermaphroditism, and high risk of Wilms' tumor. KTS (lysine-threonine-serine) splice site mutations in WT1 intron 9 have been described in patients with Frasier syndrome, another rare syndrome defined by...

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Identifiers

PMID: 10505700
DOI: 10.1681/ASN.V10102219

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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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Mother-to-child transmitted WT1 splice-site mutation is responsible for distinct glomerular diseases.PMID 10505700Read ↗

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

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

Genotype/phenotype correlation in nephrotic syndrome caused by WT1 mutations.Semantic proximity Read ↗

WT1 splice-site mutations are rarely associated with primary steroid-resistant focal and segmental glomerulosclerosis.Semantic proximity Read ↗

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

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

WT1 and glomerular diseases.Semantic proximity Read ↗

46,XY phenotypic male with focal segmental glomerulosclerosis caused by the WT1 splice site mutation.Semantic proximity Read ↗

WT1-related disorders: more than Denys-Drash syndrome.Semantic proximity Read ↗

WT1 intron 9 splice acceptor site mutation in a 46,XY male with focal segmental glomerulosclerosis.Semantic proximity Read ↗

Genotype-phenotype analysis of pediatric patients with WT1 glomerulopathy.Semantic proximity Read ↗

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