The spectrum of diseases, genetic landscape and new mutation sites of hereditary cystic kidney disease
In this study we identified 23 mutated genes linked to renal cyst phenotypes, 10 of which had pathogenic or likely pathogenic variants. These findings facilitated the diagnosis of seven hereditary cystic kidney diseases, including ADPKD, ADTKD, ARPKD and others. Furthermore, 63 novel pathogenic or likely pathogenic variants were identified.
Authors
- Jingru Bi
- Wenkai Guo
- Qinggang Li (ORCID: https://orcid.org/0000-0002-6623-5975)
- Peng Wang (ORCID: https://orcid.org/0000-0002-0837-6382)
- Pengcheng Ji (ORCID: https://orcid.org/0009-0002-3885-7002)
- Shuang Li (ORCID: https://orcid.org/0000-0001-8331-7473)
- Yuansheng Xie
Institutions
- Nankai University (CN)
- Chinese PLA General Hospital (CN)
- National Clinical Research (US)
Publication Details
- Journal
- Clinical Kidney Journal
- Published
- 2025-03-04
- DOI
- https://doi.org/10.1093/ckj/sfaf064
- Citations
- 3
- Primary Topic
- Genetic and Kidney Cyst Diseases
- Type
- article
- Field-Weighted Citation Impact
- 5.45
Funders
- National Natural Science Foundation of China
- National Key Research and Development Program of China