title: A novel 6 bp insertion in exon 7 associated with an unusual phenotype in a family with Fabry disease.
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.
authors.affiliation: Department of Paediatrics, The University of Graz, Austria.
authors.forename: Th
authors.initials: T
authors.lastname: Kroepfl
authors.forename: K
authors.initials: K
authors.lastname: Paul
authors.forename: P
authors.initials: P
authors.lastname: Kotanko
authors.forename: B
authors.initials: B
authors.lastname: Plecko
authors.forename: E
authors.initials: E
authors.lastname: Paschke
mesh_terms: D000328:Adult; D005091:Exons / Q000235:genetics*; D000795:Fabry Disease / Q000235:genetics*; D005260:Female; D006801:Humans; D007962:Leukocytes / Q000201:enzymology; D008297:Male; D008875:Middle Aged; D009154:Mutation / Q000235:genetics*; D010641:Phenotype; D000519:alpha-Galactosidase / Q000097:blood / Q000235:genetics*
chemical_list: D000519:alpha-Galactosidase