Ítem
Acceso Abierto
Identification of mutations in Colombian patients affected with Fabry disease
Título de la revista
Autores
Uribe, Alfredo
Mateus, Heidi Eliana
Prieto, Juan Carlos
Palacios, Maria Fernanda
Ospina, Sandra Yaneth
Pasqualim, Gabriela
da Silveira Matte, Ursula
Giugliani, Roberto
Archivos
Fecha
2015
Directores
ISSN de la revista
Título del volumen
Editor
Elsevier
Buscar en:
Métricas alternativas
Resumen
Abstract
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.
Palabras clave
Keywords
Alpha galactosidase , 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 , Fabry disease , Genetic association study , Genetic heterogeneity , Genetics , Heterozygote detection , Molecular genetics , Mutation , Nucleotide sequence , Adult , Alpha-galactosidase , Base sequence , Colombia , Dna mutational analysis , Fabry disease , Female , Genetic association studies , Genetic heterogeneity , Heterozygote detection , Humans , Male , Middle aged , Molecular sequence data , Mutation , Gla gene , Lysosomal disorder , Mutations , ?-galactosidase a
