Identification of mutations in Colombian patients affected with Fabry disease
Fabry Disease (FD) is an X-linked inborn error of glycosphingolipid catabolism, caused by a deficiency of the lisosomal ?-galactosidase A (AGAL). The disorder leads to a vascular disease secondary to the involvement of kidney, heart and the central nervous system. The mutation analysis is a valuable...
| Autores: | , , , , , , , |
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| Tipo de recurso: | artículo |
| Estado: | Versión publicada |
| Fecha de publicación: | 2015 |
| País: | Colombia |
| Institución: | Universidad del Rosario |
| Repositorio: | Repositorio EdocUR - U. Rosario |
| Idioma: | inglés |
| OAI Identifier: | oai:repository.urosario.edu.co:10336/24132 |
| Acceso en línea: | https://doi.org/10.1016/j.gene.2015.08.018 https://repository.urosario.edu.co/handle/10336/24132 |
| Access Level: | acceso abierto |
| Palabra clave: | Alpha galactosidase Adult Article Clinical article Colombian Exon Fabry disease Female Gene Gene identification Gene mutation Genetic analysis Genetic counseling Genotype Heterozygote Human Male Middle aged Open reading frame Phenotype Priority journal Sequence analysis Colombia Dna mutational analysis Genetic association study Genetic heterogeneity Genetics Heterozygote detection Molecular genetics Mutation Nucleotide sequence Alpha-galactosidase Base sequence Genetic association studies Humans Molecular sequence data Gla gene Lysosomal disorder Mutations ?-galactosidase a |
| Sumario: | Fabry Disease (FD) is an X-linked inborn error of glycosphingolipid catabolism, caused by a deficiency of the lisosomal ?-galactosidase A (AGAL). The disorder leads to a vascular disease secondary to the involvement of kidney, heart and the central nervous system. The mutation analysis is a valuable tool for diagnosis and genetic counseling. Although more than 600 mutations have been identified, most mutations are private. Our objective was to describe the analysis of nine Colombian patients with Fabry disease by automated sequencing of the seven exons of the GLA gene. Two novel mutations were identified in two patients affected with the classical subtype of FD, in addition to other 6 mutations previously reported. The present study confirms the heterogeneity of mutations in Fabry disease and the importance of molecular analysis for genetic counseling, female heterozygotes detection as well as therapeutic decisions. © 2015 Elsevier B.V. |
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