Recurrence of Fabry disease as a result of paternal germline mosaicism for α-galactosidase a gene mutation
✍ Scribed by Robert Dobrovolný; Lenka Dvořáková; Jana Ledvinová; Sudheera Magage; Jan Bultas; Jean C. Lubanda; Helena Poupětová; Milan Elleder; Debora Karetová; Martin Hřebíček
- Publisher
- John Wiley and Sons
- Year
- 2005
- Tongue
- English
- Weight
- 78 KB
- Volume
- 134A
- Category
- Article
- ISSN
- 1552-4825
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Fabry disease is an X-linked recessive lysosomal storage disorder caused by a deficiency of a-galactosidase A (a-gal; EC 3.2.1.22). In the past, it has been difficult to give an unequivocal diagnosis of carrier status in Fabry disease because of the overlap between normal and heterozygote enzyme lev
Fabry disease is an X-linked inborn error of sphingolipid catabolism resulting from deficient enzyme activity of a-galactosidase A. The molecular defects of human a-galactosidase A gene causing Fabry disease have been characterized, including gene rearrangement and point mutations, which show the ge
We found a novel acceptor splice site mutation in the invariant AG of intron 6 of a-galactosidase A (a-Gal A) gene (IVS6-1G->A) in a patient with Fabry disease by sequencing of genomic DNA. Sequencing of RT-PCR revealed the deletion of first base pair (c909del) of exon 7 in mRNA and a frameshift res