title: Novel alpha-galactosidase A mutation in a female with recurrent strokes.
abstract: Anderson-Fabry disease (AFD) is an X-linked inborn error of glycosphingolipid catabolism resulting from the deficient activity of the lysosomal exoglycohydrolase, a-galactosidase A. The complete genomic and cDNA sequences of the human alpha-galactosidase A gene have been determined and to date, several disease-causing alpha-galactosidase A mutations have been identified, including missense mutations, small deletions/insertions, splice mutations, and large gene rearrangements We report a case of a 56-year-old woman with recurrent cryptogenic strokes. Ophthalmological examination revealed whorled opacities of the cornea (cornea verticillata) and dilated tortuous conjunctival vessels. She did not show other typical signs of Fabry disease such as acroparesthesias and angiokeratoma. The patient's alpha-galactosidase A activity was 4.13 nmol/mL/h in whole blood. Alpha-galactosidase A gene sequence analysis revealed a heterozygous single nucleotide point mutation at nucleotide c.550T>A in exon 4 in this woman, leading to the p.Tyr184Asn amino acid substitution.
authors: Dipartimento Biomedico di Medicina Interna e Specialistica, Università degli Studi di Palermo, Pzza delle Cliniche, n.2, 90127 Palermo, Italy. brunotutto@unipa.it
authors: Antonino
authors: A
authors: Tuttolomondo
authors: Giovanni
authors: G
authors: Duro
authors: Salvatore
authors: S
authors: Miceli
authors: Domenico
authors: D
authors: Di Raimondo
authors: Rosaria
authors: R
authors: Pecoraro
authors: Antonia
authors: A
authors: Serio
authors: Giuseppe
authors: G
authors: Albeggiani
authors: Domenico
authors: D
authors: Nuzzo
authors: Francesco
authors: F
authors: Iemolo
authors: Federica
authors: F
authors: Pizzo
authors: Serafina
authors: S
authors: Sciarrino
authors: Giuseppe
authors: G
authors: Licata
authors: Antonio
authors: A
authors: Pinto
mesh_terms: D000595:Amino Acid Sequence; D001483:Base Sequence; D000795:Fabry Disease / Q000175:diagnosis* / Q000235:genetics; D005260:Female; D006579:Heterozygote; D006801:Humans; D008875:Middle Aged; D008969:Molecular Sequence Data; D020125:Mutation, Missense; D010375:Pedigree; D012008:Recurrence; D017422:Sequence Analysis, DNA; D020521:Stroke / Q000175:diagnosis* / Q000235:genetics; D000519:alpha-Galactosidase / Q000097:blood / Q000235:genetics*
chemical_list: D000519:alpha-Galactosidase