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c.640-814T>C mutation in deep intronic region of alpha-galactosidase A gene is associated with Fabry disease via dominant-negative effect.

Gene - 5 Feb 2025

Zhang Piyi, Wang Yongxiang, Jiang Gaxue, Zhang Yiming, Chen Yonglin, Peng Yu, Chen Zixian, Bai Ming

Abstract excerpt

Fabry disease (FD) is a lysosomal storage disorder resulting from mutations in the alpha-galactosidase A (GLA) gene, characterized by pain, skin lesions, renal failure, and cardiac disease. A 60-year-old proband was hospitalized for recurrent atrial fibrillation (AF) that was unresponsive to medication, with cardiac magnetic resonance imaging (CMRI) revealing left ventricular wall hypertrophy and fat...

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PMID: 39613053
DOI: 10.1016/j.gene.2024.149127

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