Generate QR code
Open Access
Subscription Access
A clinical case of congenital chronic kidney disease with Potter syndrome caused by mutations in the WT1 gene
https://doi.org/10.25557/2073-7998.2026.05.40-44
Abstract
This paper describes a clinical case of a rare phenotype, Potter syndrome, resulting from the intrauterine development of end-stage renal failure. A rare, de novo missense variant in the WT1 gene WT1(NM_024426.6):c.1400G>A (p.Arg467Gln) was detected and verified in the proband in a heterozygous state. This clinical case is the third patient with Potter syndrome associated with this genetic variant reported in the world literature and the first in the Russian Federation. Based on the available data, it is possible to suggest an earlier onset of nephrotic syndrome in patients with the mutation identified in the proband.
Supporting agencies: The work was carried out within the framework of the state assignment of the Ministry of Science and Higher Education of the Russian Federation.
About the Author
G. V. Drozdov
Research Institute of Medical Genetics, Tomsk National Research Medical Center (Tomsk NRMC)
Russian Federation
Russian Federation
10 Naberezhnaya R. Ushayki, Tomsk, 634050
References
1. Sarkar S., DasGupta S., Barua M., et al. Potter’s sequence: a story of the rare, rarer and the rarest. Indian J Pathol Microbiol. 2015;58(1):102-104.
2. Shastry S.M., Kolte S.S., Sanagapati P.R. Potter’s Sequence. J Clin Neonatol. 2012;1(3):157-159.
3. Potter E.L. Bilateral renal agenesis. J Pediatr. 1946;29(1):68-76. DOI: 10.1016/S0022-3476(46)80241-5.
4. Bynarowicz T., Jenkins S.M., Shanks A.L. Oligohydramnios. StatPearls Publishing; 2025.
5. Hall J.G. Oligohydramnios sequence revisited in relationship to arthrogryposis, with distinctive skin changes. Am J Med Genet A. 2014;164A(11):2775-2792. DOI: 10.1002/ajmg.a.36731.
6. Husain A.N., Pysher T.J. The kidney and lower urinary tract. In: Stocker JT, Dehner LP, Husain AN, eds. Stocker and Dehner’s Pediatric Pathology. 4th ed. Wolters Kluwer/LWW; 2016:780-836.
7. Bergmann C. Early and severe polycystic kidney disease and related ciliopathies: an emerging field of interest. Nephron. 2019;141(1):5060. DOI: 10.1159/000493532.
8. Vogt B.A., Springel T. The kidney and urinary tract of the neonate. In: Martin RJ, Fanaroff AA, Walsh MC, eds. Fanaroff and Martin’s Neonatal-Perinatal Medicine: Diseases of the Fetus and Infant. 11th ed. Elsevier; 2019:1871-1895.
9. Sanna-Cherchi S., Caridi G., Weng P.L. et al. Genetic approaches to human renal agenesis/hypoplasia and dysplasia. Pediatr Nephrol. 2007;22(10):1675-1684. DOI: 10.1007/s00467-007-0479-1.
10. Benoit G., Machuca E., Antignac C. Hereditary nephrotic syndrome: a systematic approach for genetic testing and a review of associated podocyte gene mutations. Pediatr Nephrol. 2010;25(8):1621-1632. DOI: 10.1007/s00467-010-1495-0.
11. Nagano C., Nozu K. A review of the genetic background in complicated WT1-related disorders. Clin Exp Nephrol. 2025;29:1–9.
12. Huff V. Wilms’ tumours: about tumour suppressor genes, an oncogene and a chameleon gene. Nat Rev Cancer. 2011;11(2):111-121. DOI: 10.1038/nrc3002.
13. Lipska-Ziętkiewicz B.S. WT1 Disorder. 2020 Apr 30 [updated 2025 May 15]. In: Adam MP, Bick S, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2026.
14. Maalouf E.F., Ferguson J., van Heyningen V., Modi N. In utero nephropathy, Denys-Drash syndrome and Potter phenotype. Pediatr Nephrol. 1998;12(6):449-451. DOI: 10.1007/s004670050485.
15. Yoshino M., Shimabukuro W., Takeichi M., et al. A case of Potter sequence with WT1 mutation. CEN Case Rep. 2023;12(2):184-188. DOI: 10.1007/s13730-022-00742-x.
16. Nagano C., Takaoka Y., Kamei K., et al. Genotype-phenotype correlation in WT1 exon 8 to 9 missense variants. Kidney Int Rep. 2021;6(8):2114-2121. DOI: 10.1016/j.ekir.2021.05.009.
17. Chernin G., Vega-Warner V., Schoeb D.S., et al. Genotype/ phenotype correlation in nephrotic syndrome caused by WT1 mutations. Clin J Am Soc Nephrol. 2010;5(9):1655-1662. DOI: 10.2215/CJN.09351209.
18. Schumacher V., Scharer K., Wuhl E., et al. Spectrum of early onset nephrotic syndrome associated with WT1 missense mutations. Kidney Int. 1998;53(6):1594-1600. DOI: 10.1046/j.1523-1755.1998.00948.x.
19. Lehnhardt A., Karnatz C., Ahlenstiel-Grunow T., et al. Clinical and molecular characterization of patients with heterozygous mutations in Wilms tumor suppressor gene 1. Clin J Am Soc Nephrol. 2015;10(5):825-831. DOI: 10.2215/CJN.10141014.
20. Shimamura Y., Okamoto T., Abe K., et al. WAGR syndrome. Kidney Int. 2021;99(1):271. DOI: 10.1016/j.kint.2020.05.017.
Review
For citations:
Drozdov G.V. A clinical case of congenital chronic kidney disease with Potter syndrome caused by mutations in the WT1 gene. Medical Genetics. 2026;25(5):40-44. (In Russ.) https://doi.org/10.25557/2073-7998.2026.05.40-44
Views:
54
JATS XML
Email this article 