Novel trinucleotide deletion in Fabry's disease.
We describe the molecular characterization of a novel, in-frame deletion that is located in exon 7 of the alpha-galactosidase A gene in a patient with Fabry's disease. The 3-bp deletion we identified, besides the typical severe clinical features, also expresses diffuse facial telangiectasias, which is a new cutaneous marker of Fabry's disease.
Cariolou
M A
MA
Department of Molecular Genetics, Cyprus Institute of Neurology and Genetics, Nicosia.
Christodoulides
M
M
Manoli
P
P
Kokkofitou
A
A
Tsambaos
D
D
D001483:Base Sequence; D000795:Fabry Disease / Q000235:genetics*; D006801:Humans; D008297:Male; D008875:Middle Aged; D008969:Molecular Sequence Data; D009154:Mutation; D010375:Pedigree; D016133:Polymerase Chain Reaction; D017384:Sequence Deletion / Q000235:genetics*