ArticleClinical journal of the American Society of Nephrology : CJASN2010
A novel WT1 gene mutation in a three-generation family with progressive isolated focal segmental glomerulosclerosis.
Article in Clinical journal of the American Society of Nephrology : CJASN, 2010. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 17 papers.
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17 citing papers in PubMed, 36 citations in OpenAlex.
- Auxiliary genetic analysis in a Chinese adolescent NPH family by single nucleotide polymorphism screening.Molecular medicine reports · 2020Trial
- Disease-driven post-transcriptional alterations and alternative splicing in podocytes in focal segmental glomerulosclerosis.EMBO molecular medicine · 2026Article
- WT1 gene: a potential therapeutic target for multiple cancer treatment strategies.Clinical and experimental medicine · 2025Review
- Molecular Genetics Solves the Conundrum of Two Brothers Affected With Proteinuria Coming With a Very Different Flavor: A Case Report.Kidney medicine · 2025Article
- Article
- Spectrum of Clinical Manifestations in Children WithFrontiers in pediatrics · 2022Article
- Degree of foot process effacement in patients with genetic focal segmental glomerulosclerosis: a single-center analysis and review of the literature.Scientific reports · 2021Review
- Clinical utility of ultra-rapid whole-genome sequencing in an infant with atypical presentation ofCold Spring Harbor molecular case studies · 2020Article
- The Protective Effect of Shen Qi Wan on Adenine-Induced Podocyte Injury.Evidence-based complementary and alternative medicine : eCAM · 2020Article
- Hereditary Podocytopathies in Adults: The Next Generation.Kidney diseases (Basel, Switzerland) · 2017Review
- Wnt/β-catenin signalling and podocyte dysfunction in proteinuric kidney disease.Nature reviews. Nephrology · 2015Review
- Clinical and molecular characterization of patients with heterozygous mutations in wilms tumor suppressor gene 1.Clinical journal of the American Society of Nephrology : CJASN · 2015Article
- A novel missense mutation of Wilms' Tumor 1 causes autosomal dominant FSGS.Journal of the American Society of Nephrology : JASN · 2015Article
- Wilms' tumour suppressor gene 1 (WT1) is involved in the carcinogenesis of Lung cancer through interaction with PI3K/Akt pathway.Cancer cell international · 2013Article
- A familial WT1 mutation associated with incomplete Denys-Drash syndrome.European journal of pediatrics · 2013Article
- Atypical clinical presentation of a WT1-related syndrome associated with a novel exon 6 gene mutation.BMJ case reports · 2013Article
- A novel WT1 gene mutation in a patient with Wilms' tumor and 46, XY gonadal dysgenesis.European journal of pediatrics · 2011Article
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Authors and funding
9 authors at 5 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
BACKGROUND AND
objectivesWilms tumor-suppressor gene-1 (WT1) plays a key role in kidney development and function. WT1 mutations usually occur in exons 8 and 9 and are associated with Denys-Drash, or in intron 9 and are associated with Frasier syndrome. However, overlapping clinical and molecular features have been reported. Few familial cases have been described, with intrafamilial variability. Sporadic cases of WT1 mutations in isolated diffuse mesangial sclerosis or focal segmental glomerulosclerosis have also been reported. DESIGN, SETTING, PARTICIPANTS, & MEASUREMENTS: Molecular analysis of WT1 exons 8 and 9 was carried out in five members on three generations of a family with late-onset isolated proteinuria. The effect of the detected amino acid substitution on WT1 protein's structure was studied by bioinformatics tools.
resultsThree family members reached end-stage renal disease in full adulthood. None had genital abnormalities or Wilms tumor. Histologic analysis in two subjects revealed focal segmental glomerulosclerosis. The novel sequence variant c.1208G>A in WT1 exon 9 was identified in all of the affected members of the family.
conclusionsThe lack of Wilms tumor or other related phenotypes suggests the expansion of WT1 gene analysis in patients with focal segmental glomerulosclerosis, regardless of age or presence of typical Denys-Drash or Frasier syndrome clinical features. Structural analysis of the mutated protein revealed that the mutation hampers zinc finger-DNA interactions, impairing target gene transcription. This finding opens up new issues about WT1 function in the maintenance of the complex gene network that regulates normal podocyte function.
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