Medizinische Universität Graz Austria/Österreich - Forschungsportal - Medical University of Graz
Gewählte Publikation:
Kroepfl, T; Paul, K; Kotanko, P; Plecko, B; Paschke, E.
A novel 6 bp insertion in exon 7 associated with an unusual phenotype in a family with Fabry disease.
J Inherit Metab Dis. 2002; 25(8):695-696
Doi: 10.1023/A:1022833332162
(- Case Report)
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- Führende Autor*innen der Med Uni Graz
- Kroepfl Thomas
- Paschke Eduard
- Co-Autor*innen der Med Uni Graz
- Paul Karl
- Plecko Barbara
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- Abstract:
- A male patient presented with oligosymptomatic Fabry disease (end stage renal failure and non-obstructive cardiomyopathy) at around 30 years of age. His leukocyte alpha-galactosidase activity (alpha-gal) was 2.6% of controls. A 50-year-old sister had similar cardiac symptoms and her asymptomatic heterozygous daughter (33 years) had normal enzyme activity. All three patients carried a novel, 6bp insertion on exon 7 of the AGAL gene. The majority of male Fabry patients carrying mutations in exon 7 have residual alpha-gal below 1% and suffer from neuropathic pain. Comparable oligosymptomatic phenotypes in Caucasian patients carry a common mutation on exon 6 (R301Q) and have a significantly later onset. The course of the disease is likely to be altered by recombinant enzyme therapy in the future. Therefore, a thorough documentation of phenotypes, residual activities and underlying genotypes is of current interest.
- Find related publications in this database (using NLM MeSH Indexing)
- Adult -
- Exons - genetics
- Fabry Disease - genetics
- Female -
- Humans -
- Leukocytes - enzymology
- Male -
- Middle Aged -
- Mutation - genetics
- Phenotype -
- alpha-Galactosidase - blood
- alpha-Galactosidase - genetics