title: Identification of mutations in Colombian patients affected with Fabry disease.
abstract: Fabry Disease (FD) is an X-linked inborn error of glycosphingolipid catabolism, caused by a deficiency of the lisosomal α-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.
authors: Centro de Investigaciones en Bioquímica (CIBI), Departamento de Ciencias Biológicas, Universidad de Los Andes, Carrera 1 No. 18° - 12, Bogotá, Colombia. Electronic address: jeuribe@uniandes.edu.co.
authors: Alfredo
authors: A
authors: Uribe
authors: Unidad de Genética, Escuela de Medicina y Ciencias de la Salud, Universidad del Rosario, Carrera 24N° 63C-69, Bogotá, Colombia. Electronic address: heidi.mateus@urosario.edu.co.
authors: Heidi Eliana
authors: HE
authors: Mateus
authors: Instituto de Genética, Facultad de Medicina, Universidad Javeriana, Carrera 7 No. 40-62 Ed. 32, Bogotá, Colombia.
authors: Juan Carlos
authors: JC
authors: Prieto
authors: Instituto de Genética, Facultad de Medicina, Universidad Javeriana, Carrera 7 No. 40-62 Ed. 32, Bogotá, Colombia.
authors: Maria Fernanda
authors: MF
authors: Palacios
authors: Unidad de Genética, Escuela de Medicina y Ciencias de la Salud, Universidad del Rosario, Carrera 24N° 63C-69, Bogotá, Colombia.
authors: Sandra Yaneth
authors: SY
authors: Ospina
authors: Centro de Terapia Gênica, Centro de Pesquisa Experimental, Hospital de Clínicas de Porto Alegre, Rua Ramiro Barcelos, 2350, Porto Alegre, RS 90035-003, Brazil.
authors: Gabriela
authors: G
authors: Pasqualim
authors: Centro de Terapia Gênica, Centro de Pesquisa Experimental, Hospital de Clínicas de Porto Alegre, Rua Ramiro Barcelos, 2350, Porto Alegre, RS 90035-003, Brazil; Serviço de Genética Médica, Hospital de Clínicas de Porto Alegre, Rua Ramiro Barcelos, 2350, Porto Alegre, RS 90035-003, Brazil.
authors: Ursula
authors: U
authors: da Silveira Matte
authors: Centro de Terapia Gênica, Centro de Pesquisa Experimental, Hospital de Clínicas de Porto Alegre, Rua Ramiro Barcelos, 2350, Porto Alegre, RS 90035-003, Brazil; Serviço de Genética Médica, Hospital de Clínicas de Porto Alegre, Rua Ramiro Barcelos, 2350, Porto Alegre, RS 90035-003, Brazil.
authors: Roberto
authors: R
authors: Giugliani
mesh_terms: D000328:Adult; D001483:Base Sequence; D003105:Colombia; D004252:DNA Mutational Analysis; D000795:Fabry Disease / Q000235:genetics*; D005260:Female; D056726:Genetic Association Studies; D006580:Genetic Carrier Screening; D018740:Genetic Heterogeneity; D006801:Humans; D008297:Male; D008875:Middle Aged; D008969:Molecular Sequence Data; D009154:Mutation; D000519:alpha-Galactosidase / Q000235:genetics*
chemical_list: D000519:alpha-Galactosidase
keywords: GLA gene; Lysosomal disorder; Mutations; α-galactosidase A