Novel alpha-galactosidase A mutation in a female with recurrent strokes

作者：Tuttolomondo Antonino^*; Duro Giovanni; Miceli Salvatore; Di Raimondo Domenico; Pecoraro Rosaria; Serio Antonia; Albeggiani Giuseppe; Nuzzo Domenico; Iemolo Francesco; Pizzo Federica; Sciarrino Serafina; Licata Giuseppe; Pinto Antonio

来源：Clinical Biochemistry, 2012, 45(16-17): 1525-1530.

DOI：10.1016/j.clinbiochem.2012.07.085

• Anderson-Fabry disease
• alpha-Galactosidase

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%26apos;s alpha-galactosidase A activity was 4.13 nmol/mL/h in whole blood. %26lt;br%26gt;Alpha-galactosidase A gene sequence analysis revealed a heterozygous single nucleotide point mutation at nucleotide c.550 T%26gt;A in exon 4 in this woman, leading to the p.Tyr184Asn amino acid substitution.

• 出版日期2012-11