A novel variant leads to WT1-related nephrotic syndrome and differences of sex development: a case report
Through high-throughput sequencing and <i>in vitro</i> minigene splicing experiments, the c.1447 + 6T > C variant in the <i>WT1</i> gene was supported as the underlying genetic cause in the child patient, thereby expanding the spectrum of gene variants of <i>WT1 gene</i> and enhancing our comprehension of the molecular pathogenesis of this disorder.
Authors
- Nana Nie
- Jia Liu (ORCID: https://orcid.org/0000-0002-2845-1028)
- Bai Cui
- Yi Lin (ORCID: https://orcid.org/0000-0002-7194-5023)
- Hong Chang (ORCID: https://orcid.org/0000-0002-1318-0624)
- Lin Liu (ORCID: https://orcid.org/0000-0001-9690-1302)
- Shan Gao (ORCID: https://orcid.org/0000-0001-6370-4994)
- Ranran Zhang (ORCID: https://orcid.org/0000-0002-5273-3615)
- Dahai Wang (ORCID: https://orcid.org/0000-0001-5488-4831)
- Xi‐Qin Ding
- Qiuye Zhang
Institutions
- Qingdao University (CN)
- Affiliated Hospital of Qingdao University (CN)
- Qingdao Municipal Hospital (CN)
- Qingdao Center of Resource Chemistry and New Materials (CN)
Publication Details
- Journal
- Frontiers in Pediatrics
- Published
- 2025-09-04
- DOI
- https://doi.org/10.3389/fped.2025.1657533
- Primary Topic
- Renal and related cancers
- Type
- article
- Field-Weighted Citation Impact
- 0.00
Funders
- Qingdao University