The multiple cases of Fabry disease in a Russian family caused by an E341K amino acid substitution in the α-galactosidase A

A large Russian family with multiple cases of Fabry disease in several generations is presented. Fourteen family members were clinico-biochemically examined. Among 12 adult children (19–32 years old) of one couple, five sons manifested angiokeratotic skin lesions and other Fabry symptoms. Biochemica...

Full description

Saved in:
Bibliographic Details
Published in:Clinica chimica acta 1999-02, Vol.280 (1), p.81-89
Main Authors: Beyer, E.M, Karpova, E.A, Udalova, O.V, Ploos van Amstel, J.K, van Diggelen, O.P, Tsvetkova, I.V
Format: Article
Language:English
Subjects:
Adult
alpha-Galactosidase - genetics
Amino Acid Substitution
Child, Preschool
Fabry disease
Fabry Disease - enzymology
Fabry Disease - ethnology
Fabry Disease - genetics
Female
Gene
Humans
Infant
Lysosomal glycosidases
Male
Middle Aged
Mutation
Pedigree
Russia
α-Galactosidase
Citations: Items that this one cites
Items that cite this one
Online Access:Get full text
Tags: Add Tag
No Tags, Be the first to tag this record!
Description
Summary:A large Russian family with multiple cases of Fabry disease in several generations is presented. Fourteen family members were clinico-biochemically examined. Among 12 adult children (19–32 years old) of one couple, five sons manifested angiokeratotic skin lesions and other Fabry symptoms. Biochemical studies including an enzyme assay, the analysis of glycosphingolipid excretion and isoelectric focusing of a patient leukocyte extract allowed us to identify Fabry disease in four affected brothers and to establish the heterozygous status of their mother. The analysis of genomic DNA of four patients and their mother revealed a novel E341K missense mutation caused by a G to A transition (codon 341 GAA-AAA) in the α-galactosidase A gene.
ISSN:0009-8981
1873-3492
DOI:10.1016/S0009-8981(98)00133-8