ArticleAmerican journal of human genetics1998
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.
Article in American journal of human genetics, 1998. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 83 papers.
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Who cites it
83 citing papers in PubMed.
- Genetic insights into congenital and infantile nephrotic syndrome: predicting severity and informing care.Pediatric nephrology (Berlin, Germany) · 2026Review
- Congenital and infantile nephrotic syndrome: genotype-phenotype associations.Pediatric research · 2026Article
- WT1-Related Nephropathy in a Phenotypically Female Child: A Case of Clinical and Genetic Discordance.Children (Basel, Switzerland) · 2025Article
- Case Report: Neonatal nephropathy with polycystic appearance in child harboring WT1 variant.Frontiers in pediatrics · 2025Article
- Evaluation of pathogenicity of WT1 intron variants by in vitro splicing analysis.Clinical and experimental nephrology · 2024Article
- [A case of 46,XX testicular disorders of sex development due to an apparent synonymous variant in theProblemy endokrinologii · 2024Article
- Frasier Syndrome: A 15-Year-Old Phenotypically Female Adolescent Presenting with Delayed Puberty and Nephropathy.Children (Basel, Switzerland) · 2023Article
- WT1 complete gonadal dysgenesis with membranoproliferative glomerulonephritis: case series and literature review.Pediatric nephrology (Berlin, Germany) · 2022Review
- Clonal Cytopenia of Undetermined Significance in a Patient with Congenital Wilms' Tumor 1 and Acquired DNMT3A Gene Mutations.Internal medicine (Tokyo, Japan) · 2021Article
- Exonic WT1 pathogenic variants in 46,XY DSD associated with gonadoblastoma.Endocrine connections · 2021Article
- Generation of Monogenic Candidate Genes for Human Nephrotic Syndrome Using 3 Independent Approaches.Kidney international reports · 2021Article
- Targeted broad-based genetic testing by next-generation sequencing informs diagnosis and facilitates management in patients with kidney diseases.Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association · 2021Article
- Congenital nephrotic syndrome: is early aggressive treatment needed?-No.Pediatric nephrology (Berlin, Germany) · 2020Review
- Congenital nephrotic syndrome: is early aggressive treatment needed? Yes.Pediatric nephrology (Berlin, Germany) · 2020Review
- Clinical utility of ultra-rapid whole-genome sequencing in an infant with atypical presentation ofCold Spring Harbor molecular case studies · 2020Article
- Testis formation in XX individuals resulting from novel pathogenic variants in Wilms' tumor 1 (Proceedings of the National Academy of Sciences of the United States of America · 2020Article
- Article
- Detailed clinical manifestations at onset and prognosis of neonatal-onset Denys-Drash syndrome and congenital nephrotic syndrome of the Finnish type.Clinical and experimental nephrology · 2019Article
- The Role of p.Ser1105Ser (inMedicina (Kaunas, Lithuania) · 2019Article
- Panel sequencing distinguishes monogenic forms of nephritis from nephrosis in children.Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association · 2019Article
23 more citing papers are in PubMed but not listed here.
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Authors and funding
12 authors.
Funding
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Abstract
Constitutional mutations of the WT1 gene, encoding a zinc-finger transcription factor involved in renal and gonadal development, are found in most patients with Denys-Drash syndrome (DDS), or diffuse mesangial sclerosis (DMS) associated with pseudohermaphroditism and/or Wilms tumor (WT). Most mutations in DDS patients lie in exon 8 or exon 9, encoding zinc finger 2 or zinc finger 3, respectively, with a hot spot (R394W) in exon 9. We analyzed a series of 24 patients, 10 with isolated DMS (IDMS), 10 with DDS, and 4 with urogenital abnormalities and/or WT. We report WT1 heterozygous mutations in 16 patients, 4 of whom presented with IDMS. One male and two female IDMS patients with WT1 mutations underwent normal puberty. Two mutations associated with IDMS are different from those described in DDS patients. No WT1 mutations were detected in the six other IDMS patients, suggesting genetic heterogeneity of this disease. We analyzed genotype/phenotype correlations, on the basis of the constitution of a WT1 mutation database of 84 germ-line mutations, to compare the distribution and type of mutations, according to the different symptoms. This demonstrated (1) the association between mutations in exons 8 and 9 and DMS; (2) among patients with DMS, a higher frequency of exon 8 mutations among 46, XY patients with female phenotype than among 46,XY patients with sexual ambiguity or male phenotype; and (3) statistically significant evidence that mutations in exons 8 and 9 preferentially affect amino acids with different functions.
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