Case Report: Neonatal nephropathy with polycystic appearance in child harboring WT1 variant
Our observation highlights two aspects of the WT1 p.Arg467Gln variant in WT1-related nephropathy: (1) The p.Arg467Gln variant causes severe neonatal-onset nephropathy likely through a potent dominant-negative inhibition, and (2) it may manifest a cystic/dysplastic renal phenotype in the presence of coexisting cytogenic modifiers. Future studies are necessary to assess the relevance of the <i>COL4A4</i> variant in cystic disease and to explore hidden modifier genes through deep sequencing.
Authors
- Tho D. Pham (ORCID: https://orcid.org/0000-0002-5900-0289)
- Kenji Fukui (ORCID: https://orcid.org/0000-0003-2468-7559)
- Hiroyasu Tsukaguchi
- Doan Duy Hai Tran (ORCID: https://orcid.org/0000-0003-2392-0259)
- Quynh Thuy Huong Tran (ORCID: https://orcid.org/0000-0002-6077-4783)
- Huong Thi Thanh Nguyen (ORCID: https://orcid.org/0000-0002-6468-4363)
- Tuyen Thi Thanh Nguyen
Institutions
- Kansai Medical University (JP)
- Children's Hospital 2 (VN)
- Children's Hospital 1 (VN)
- Nara Women's University (JP)
Publication Details
- Journal
- Frontiers in Pediatrics
- Published
- 2025-12-10
- DOI
- https://doi.org/10.3389/fped.2025.1693036
- Primary Topic
- Renal and related cancers
- Type
- article
- Field-Weighted Citation Impact
- 0.00
Funders
- Japan Society for the Promotion of Science