Molecular mechanisms of TTC21B gene mutations in nephronophthisis type 12 and genetic prevention through PGT
The compound heterozygous mutations c.895T>C (p.C299R) and c.1552T>C (p.C518R) in <i>TTC21B</i> contribute to NPHP12 by disrupting ciliogenesis and podocyte morphology. These findings provide targets for PGT-based embryo selection, successfully preventing the familial recurrence of this disease.
Authors
- Xiaoxiang Hu (ORCID: https://orcid.org/0000-0001-7045-0283)
- Guiling Cao (ORCID: https://orcid.org/0000-0003-0265-3884)
- Huijuan Wei (ORCID: https://orcid.org/0000-0001-7108-5943)
- Jingjing Li (ORCID: https://orcid.org/0000-0001-6136-3428)
- Di Tang (ORCID: https://orcid.org/0000-0002-8813-8391)
- Kai Ying Deng (ORCID: https://orcid.org/0000-0003-4753-8564)
- Chenyi Wang (ORCID: https://orcid.org/0009-0003-6241-521X)
- Qingqing Cheng
- Yu Jiang (ORCID: https://orcid.org/0000-0001-5186-4587)
- Liyi Cai (ORCID: https://orcid.org/0009-0003-3024-038X)
- Xiaoyan Wang (ORCID: https://orcid.org/0009-0002-1735-7148)
Institutions
- Hebei Medical University (CN)
- Hubei University of Medicine (CN)
- Hospital of Hebei Province (CN)
- Taiwan Centers for Disease Control (TW)
Publication Details
- Journal
- Frontiers in Genetics
- Published
- 2025-11-25
- DOI
- https://doi.org/10.3389/fgene.2025.1710252
- Primary Topic
- Genetic and Kidney Cyst Diseases
- Type
- article
- Field-Weighted Citation Impact
- 0.00
Funders
- Health Commission of Hebei Province
- Natural Science Foundation of Hebei Province
- Ministry of Public Security of the People's Republic of China
- Institute of Forensic Science, Ministry of Public Security
- Renmin Hospital of Wuhan University