ArticleFrontiers in genetics2025
Four novel genetic mutations are associated with patent foramen ovale in Tibetan population using whole exome sequencing.
Article in Frontiers in genetics, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.
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Abstract
Objective: Patent foramen ovale (PFO), a prevalent congenital cardiac defect, is linked to clinical conditions such as cryptogenic stroke and migraine. The genetic underpinnings of PFO remain poorly elucidated, particularly in Tibet. This study aimed to identify potential pathogenic mutations in Tibetan PFO patients via whole exome sequencing (WES) to clarify its genetic basis. Methods: Eighteen Tibetan PFO patients diagnosed by echocardiography were enrolled. Peripheral blood samples underwent WES using Illumina HiSeq platform, followed by bioinformatics analysis to filter rare variants. Pathogenicity was assessed using predictive tools (SIFT, PolyPhen V2, and MutationTaster) and cardiac development-related gene databases (OMIM, HPO, HGMD, and MGI). Results: In this study, we identified four novel pathogenetic mutations in Tibetan PFO patients, including Conclusion: This study first reveals genetic characteristics of Tibetan PFO patients, implicating
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