ArticleClinical journal of the American Society of Nephrology : CJASN2015
Clinical and molecular characterization of patients with heterozygous mutations in wilms tumor suppressor gene 1.
Article in Clinical journal of the American Society of Nephrology : CJASN, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 39 papers.
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
39 citing papers in PubMed, 75 citations in OpenAlex.
- Landscape of parental postzygotic mutations across >11,000 rare disease trios.American journal of human genetics · 2026Article
- Genetic and Epigenetic Drivers of Wilms Tumor Predisposition in Russian Pediatric Patients: A Multicenter Study.International journal of molecular sciences · 2026Article
- A case of Frasier syndrome achieved complete remission by cyclosporine A for steroid-resistant nephrotic syndrome.CEN case reports · 2025Article
- WT1 pathogenic variant in azoospermic infertile men with an isolated undescended testis.Clinical and experimental reproductive medicine · 2025Article
- Potential involvement of abnormal splicing in severe WT1-related disorders.Clinical and experimental nephrology · 2025Article
- Wilms tumor characteristics in children with heterozygous germline DIS3L2 variants.Genetics in medicine : official journal of the American College of Medical Genetics · 2025Article
- Differences in kidney prognosis between congenital and infantile nephrotic syndrome.Pediatric nephrology (Berlin, Germany) · 2025Article
- Article
- Genotype-Phenotype Correlations in Denys-Drash Syndrome in Children.Kidney international reports · 2025Article
- A review of the genetic background in complicated WT1-related disorders.Clinical and experimental nephrology · 2025Review
- Case Report: a novel variant inFrontiers in nephrology · 2025Article
- Clinical Characterization of a National Cohort of Patients With GermlineKidney international reports · 2024Article
- WT1-related disorders: more than Denys-Drash syndrome.Pediatric nephrology (Berlin, Germany) · 2024Review
- The Role of Genetic Testing in Adult CKD.Journal of the American Society of Nephrology : JASN · 2024Article
- Kidney Organoid Modeling of WT1 Mutations Reveals Key Regulatory Paths Underlying Podocyte Development.Advanced science (Weinheim, Baden-Wurttemberg, Germany) · 2024Article
- Hallmark discoveries in the biology of Wilms tumour.Nature reviews. Urology · 2024Review
- Prophylactic bilateral nephrectomy and preemptive kidney transplantation for Denys-Drash syndrome prior to development of kidney failure.Pediatric nephrology (Berlin, Germany) · 2024Article
- Pediatric Kidney Transplantation: Cancer and Cancer Risk.Seminars in nephrology · 2024Review
- Genetic and epigenetic features of bilateral Wilms tumor predisposition in patients from the Children's Oncology Group AREN18B5-Q.Nature communications · 2023Article
- A case of Potter sequence with WT1 mutation.CEN case reports · 2023Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
32 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
BACKGROUND AND
objectivesThe Wilms tumor suppressor gene 1 (WT1) plays an essential role in urogenital and kidney development. Genotype/phenotype correlations of WT1 mutations with renal function and proteinuria have been observed in world-wide cohorts with nephrotic syndrome or Wilms tumor (WT). This study analyzed mid-European patients with known constitutional heterozygous mutations in WT1, including patients without proteinuria or WT. DESIGN, SETTING, PARTICIPANTS & MEASUREMENTS: Retrospective analysis of genotype, phenotype, and treatment of 53 patients with WT1 mutation from all pediatric nephrology centers in Germany, Austria, and Switzerland performed from 2010 to 2012.
resultsMedian age was 12.4 (interquartile range [IQR], 6-19) years. Forty-four of 53 (83%) patients had an exon mutation (36 missense, eight truncating), and nine of 53 (17%) had an intronic lysine-threonine-serine (KTS) splice site mutation. Fifty of 53 patients (94%) had proteinuria, which occurred at an earlier age in patients with missense mutations (0.6 [IQR, 0.1-1.5] years) than in those with truncating (9.7 [IQR, 5.7-11.9]; P<0.001) and splice site (4.0 [IQR, 2.6-6.6]; P=0.004) mutations. Thirteen of 50 (26%) were treated with steroids and remained irresponsive, while three of five partially responded to cyclosporine A. Seventy-three percent of all patients required RRT, those with missense mutations significantly earlier (at 1.1 [IQR, 0.01-9.3] years) than those with truncating mutations (16.5 [IQR, 16.5-16.8]; P<0.001) and splice site mutations (12.3 [IQR, 7.9-18.2]; P=0.002). Diffuse mesangial sclerosis was restricted to patients with missense mutations, while focal segmental sclerosis occurred in all groups. WT occurred only in patients with exon mutations (n=19). Fifty of 53 (94%) patients were karyotyped: Thirty-one (62%) had XY and 19 (38%) had XX chromosomes, and 96% of male karyotypes had urogenital malformations.
conclusionsType and location of WT1 mutations have predictive value for the development of proteinuria, renal insufficiency, and WT. XY karyotype was more frequent and associated with urogenital malformations in most cases.
Indexed as
Identifiers
What OpenQuestion holds
Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.