Novel <scp><i>PKD1</i></scp> Mutation (c.<scp>G10086T</scp>) Drives High Intracranial Aneurysm Risk in Autosomal Dominant Polycystic Kidney Disease
The newly identified PKD1:c.G10086T mutation represents a high-risk genetic variant for IA development in ADPKD. Our findings provide new insights into the vascular complications of ADPKD and suggest that PKD1 genotyping may help identify patients requiring intensive IA surveillance. This study supports the development of mutation-specific screening strategies for ADPKD-associated vascular complications.
Authors
- Jianhua Guan (ORCID: https://orcid.org/0000-0001-7821-2394)
- Jilian Liao
- Lihua Wu (ORCID: https://orcid.org/0000-0003-4505-0805)
- Zuopeng Lin (ORCID: https://orcid.org/0000-0001-5045-5642)
- Xiaohua Yan (ORCID: https://orcid.org/0000-0002-7528-5771)
- Yuansheng Liao
- Jing Chen (ORCID: https://orcid.org/0000-0002-5763-6902)
- Jushan Lin
- Yinzhou Wang (ORCID: https://orcid.org/0000-0002-9595-2244)
- Lili Gao (ORCID: https://orcid.org/0009-0009-0448-1909)
- Sheng Zhang (ORCID: https://orcid.org/0000-0001-9370-0548)
- Min Lin
- Yan Qiu (ORCID: https://orcid.org/0000-0001-5240-630X)
- Zhaocong Zheng (ORCID: https://orcid.org/0000-0002-4155-3774)
- Sheng Hsien Lin (ORCID: https://orcid.org/0000-0001-8624-1881)
- Cheng-Han Wu
Institutions
- Fujian University of Traditional Chinese Medicine (CN)
- Fujian Medical University (CN)
- Fujian Provincial Hospital (CN)
Publication Details
- Journal
- European Journal of Neurology
- Published
- 2025-02-01
- DOI
- https://doi.org/10.1111/ene.70086
- Citations
- 2
- Primary Topic
- Genetic and Kidney Cyst Diseases
- Type
- article
- Field-Weighted Citation Impact
- 3.63
Funders
- Fujian University of Traditional Chinese Medicine
- Fujian Provincial Health Commission