Four novel genetic mutations are associated with patent foramen ovale in Tibetan population using whole exome sequencing
This study first reveals genetic characteristics of Tibetan PFO patients, implicating <i>GABRP</i>, <i>GJB4</i>, <i>RTTN</i>, and <i>USH2A</i> mutations in disrupting cardiac developmental pathways, potentially contributing to the occurrence of PFO. Findings underscore genetic factors regarding PFO prevalence in populations living in high-altitude and provide insights for molecular research and precision medicine.
Authors
- Yong Wu (ORCID: https://orcid.org/0000-0003-4769-935X)
- Zeng He (ORCID: https://orcid.org/0000-0003-2649-5243)
- Hongwei Li (ORCID: https://orcid.org/0000-0001-6231-4126)
- Dong Wang (ORCID: https://orcid.org/0000-0001-9099-566X)
- Yongjun He
- Liming Zhao (ORCID: https://orcid.org/0000-0001-5047-2194)
- Wei Du (ORCID: https://orcid.org/0000-0003-3872-0348)
- Lanxin Liu (ORCID: https://orcid.org/0009-0000-9422-1987)
Institutions
- Xizang Minzu University (CN)
- People's Hospital of Xinjiang Uygur Autonomous Region (CN)
- People's Government of Shaanxi Province (CN)
Publication Details
- Journal
- Frontiers in Genetics
- Published
- 2025-08-18
- DOI
- https://doi.org/10.3389/fgene.2025.1592306
- Primary Topic
- Cardiovascular and Diving-Related Complications
- Type
- article
- Field-Weighted Citation Impact
- 0.00
Funders
- Science and Technology Department of Tibet