Molecular Characterization of the GBA Gene in Patients from Southwest of Colombia with Gaucher Disease
| dc.contributor.author | Terranova, Daniela Arturo | |
| dc.contributor.author | Giraldo, Lina Johanna Moreno | |
| dc.contributor.author | Idrobo, Henry | |
| dc.contributor.author | Satizabal, José María | |
| dc.date.accessioned | 2025-07-17T15:53:28Z | |
| dc.date.available | 2025-07-17T15:53:28Z | |
| dc.date.issued | 2021 | |
| dc.description.abstract | Introduction: Gaucher’s disease (GD) is an autosomal-recessive lysosomal storage disorder that results from hereditary deficiency of the acid glucocerebrosidase enzyme, encoded by the GBA gene necessary for the degradation of glucosylceramide. Objective: molecularly characterize the variants found in the GBA gene present in patients from the Southwest of Colombia with GD. Material and methods: 19 patients were included in the study, clinically and enzymatically diagnosed with GD. A molecular analysis of the GBA gene was performed and the variants were subsequently searched in different population and clinical databases. A bioinformatic analysis was performed. Results: The variants in the GBA gene reported were classified into: 14/19 homozygous patients, 4/19 compound heterozygote and 1/19 heterozygous. The presence of 7 variants coding for 8 different genotypes was reported. Also the known mutations like Asn409Ser, p.Leu483Pro, p.Lys237Glu, p.Glu427Lys, and p.Arg535His were identified in these patients. The most frequent genotype was p. Asn409Ser / Asn409Ser (36%). All the variants presented a pathogenic clinical significance. Conclusion: The given study will make it possible to understand the susceptibility to GD in the population. This can help maintain the health quotient of the population through premarital counseling and therefore minimize the burden of disease among the population. | |
| dc.identifier.citation | Terranova, D. A., Giraldo, L. J. M., Idrobo, H., & Satizabal, J. M. (2021). Molecular Characterization of the GBA Gene in Patients from Southwest of Colombia with Gaucher Disease. Journal of Inborn Errors of Metabolism and Screening, 9. https://doi.org/10.1590/2326-4594-JIEMS-2020-0018 | |
| dc.identifier.issn | 23264098 | |
| dc.identifier.uri | https://repositorio.usc.edu.co/handle/20.500.12421/7477 | |
| dc.language.iso | en | |
| dc.subject | Computational Biology | |
| dc.subject | Gaucher Disease | |
| dc.subject | GBA gene | |
| dc.subject | Lysosomal Storage Diseases | |
| dc.subject | Variants (DeCS) | |
| dc.title | Molecular Characterization of the GBA Gene in Patients from Southwest of Colombia with Gaucher Disease | |
| dc.type | Article |