title: [Mutation of the alpha-galactosidase A gene in two unusual variations of Fabray's disease].
abstract: The mutation analysis of alpha-galactosidase A gene was carried out in two families with Fabry disease described by us earlier. In the family P. a new point mutation E341K (a G to A transition at position 10,999 of the gene) was identified. The mutation causes a Glu341Lys substitution in alpha-galactosidase A molecule. Another point mutation was identified in a patient from family N. who had unusual unusually high residual activity of alpha-galactosidase A. The mutation was identified as R112C (a C to T transition at position 5233 of alpha-galactosidase A gene) and it caused the Arg112Cys substitution in the enzyme molecule. This mutation was earlier described in Japanese patient with showed a complete loss of enzyme activity. However, in this case the mutation was combined with another mutation Glu66Gln. The relationship between genetic heterogeneity and clinical manifestation of Fabry disease is discussed.
authors.affiliation: Institute of Biomedical Chemistry, RAMS, Moscow, Russia.
authors.forename: E M
authors.initials: EM
authors.lastname: Beĭer
authors.forename: S V
authors.initials: SV
authors.lastname: Kopishinskaia
authors.forename: J K
authors.initials: JK
authors.lastname: Ploos van Amstel
authors.forename: I V
authors.initials: IV
authors.lastname: Tsvetkova
mesh_terms: D019943:Amino Acid Substitution; D000795:Fabry Disease / Q000201:enzymology* / Q000235:genetics; D018740:Genetic Heterogeneity; D006801:Humans; D017354:Point Mutation; D000519:alpha-Galactosidase / Q000737:chemistry / Q000235:genetics*
chemical_list: D000519:alpha-Galactosidase