Molecular characterization of a novel synonymous variant in a Mexican patient with Pompe disease
This study demonstrates that the synonymous variant c.2799G > A is pathogenic due to its impact on RNA splicing. Our findings highlight the importance of transcript analysis for VUS reclassification and stress the clinical relevance of evaluating synonymous variants in genetic diagnostics and patient management.
Authors
- Ignacio Sánchez (ORCID: https://orcid.org/0000-0003-0086-5381)
- Luis Leonardo Flores‐Lagunes (ORCID: https://orcid.org/0000-0003-1409-3888)
- Iván Martínez-Duncker (ORCID: https://orcid.org/0000-0001-5626-2892)
- Lizet Sánchez (ORCID: https://orcid.org/0000-0001-7747-1052)
- Carmen Aláez‐Verson (ORCID: https://orcid.org/0000-0003-1042-8505)
- Ekaterina Kazakova
- Carolina Molina‐Garay (ORCID: https://orcid.org/0000-0003-1633-7938)
- Joaquín García-Solorio (ORCID: https://orcid.org/0009-0008-7925-6661)
- I. Flores (ORCID: https://orcid.org/0009-0009-6357-5649)
- Carlos Alberto González-Domínguez
Institutions
- Mexican Social Security Institute (MX)
- National Institute of Genomic Medicine (MX)
- Sanofi (Mexico) (MX)
- Universidad Autónoma del Estado de Morelos (MX)
Publication Details
- Journal
- Molecular Genetics and Metabolism Reports
- Published
- 2025-09-27
- DOI
- https://doi.org/10.1016/j.ymgmr.2025.101253
- Primary Topic
- Lysosomal Storage Disorders Research
- Type
- article
- Field-Weighted Citation Impact
- 0.00