Mutations of A -galactosidase a gene in two unusual cases of fabry disease

Beyer E.M., Kopishinskaya S.V., Ploos Van Amstel J.K., Tsvetkova I.V.
PubMed Id: 10547886
Year: 1999  Volume: 45  Issue: 4  Pages: 346-349
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.
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Keywords: Fabry disease, atypical forms, alpha-galactosidase A, gene mutations

Beyer, E. M., Kopishinskaya, S. V., Ploos, Van, Amstel, J. K., Tsvetkova, I. V. (1999). Mutations of A -galactosidase a gene in two unusual cases of fabry disease. Voprosy Meditsinskoi Khimii, 45(4), 346-349.
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