Fabry disease: D313Y is an α-galactosidase A sequence variant that causes pseudodeficient activity in plasma

Molecular Genetics and Metabolism

Volumn 80, Issue 3, 2003, Pages 307-314

  Froissart, Roseline ^a   Guffon, Nathalie ^b   Vanier, Marie T ^c   Desnick, Robert J ^d   Maire, Irene ^a  

^a HÔPITAL DEBROUSSE   (France)

^b EDOUARD HERRIOT HOSPITAL   (France)

^c CENTRE HOSPITALIER LYON SUD   (France)

^d NEW YORK UNIVERSITY   (United States)

Author keywords

Fabry disease; Mutations; Sequence variant; Galactosidase A deficiency

Indexed keywords

ALPHA GALACTOSIDASE;

ADULT; ARTICLE; CASE REPORT; ENZYME ACTIVITY; ENZYME ANALYSIS; FABRY DISEASE; FEMALE; GENE EXPRESSION; GENE IDENTIFICATION; GENE MUTATION; GENE SEQUENCE; GENETIC CODE; HUMAN; LYSOSOME STORAGE DISEASE; MALE; PRIORITY JOURNAL; WILD TYPE;

EID: 0142185106     PISSN: 10967192     EISSN: None     Source Type: Journal    
DOI: 10.1016/S1096-7192(03)00136-7     Document Type: Article

References (28)

1. Desnick R.J., Ioannou Y.A., Eng C.M. α-Galactosidase A deficiency: Fabry disease. Scriver C.R., Beaudet A.L., Sly W.S., Valle D., Kinzler K.E., Vogelstein B. The Metabolic and Molecular Bases of Inherited Disease. eighth ed. 2001;3733-3774 McGraw-Hill, New York.
2. MacDermot K.D., Holmes A., Miners A.H. Anderson-Fabry disease: clinical manifestations and impact of disease in a cohort of 60 obligate carrier females. J. Med. Genet. 38:2001;769-775.
3. Elleder M., Bradova V., Smid F., Budesinsky M., Harzer K., Kustermann-Kuhn B., Ledvinova J., Belohlavek M., Kral V., Dorazilova V. Cardiocyte storage and hypertrophy as a sole manifestation of Fabry's disease. Report on a case simulating hypertrophic non-obstructive cardiomyopathy. Virchows Arch. A. Pathol. Anat. Histopathol. 417:1990;449-455.
4. von Scheidt W., Eng C.M., Fitzmaurice T.F., Erdmann E., Hubner G., Olsen E.G., Christomanou H., Kandolf R., Bishop D.F., Desnick R.J. An atypical variant of Fabry's disease with manifestations confined to the myocardium. N. Engl. J. Med. 324:1991;395-399.
5. Nakao S., Takenaka T., Maeda M., Kodama C., Tanaka A., Tahara M., Yoshida A., Kuriyama M., Hayashibe H., Sakuraba H., Tanaka H. An atypical variant of Fabry's disease in men with left ventricular hypertrophy. N. Engl. J. Med. 333:1995;288-293.
6. Sachdev B., Takenaka T., Teraguchi H., Tei C., Lee P., McKenna W.J., Elliott P.M. Prevalence of Anderson-Fabry disease in male patients with late onset hypertrophic cardiomyopathy. Circulation. 105:2002;1407-1411.
7. Nakao S., Kodama C., Takenaka T., Tanaka A., Yasumoto Y., Yoshida A., Kanzaki T., Enriquez A.L.D., Eng C.E., Tanaka H., Tei C., Desnick R.J. Fabry disease: detection of undiagnosed hemodialysis patients and identification of a "renal variant" phenotype. Kidney Int. 64:2003;801-807.
8. Bishop D.F., Calhoun D.H., Bernstein H.S., Hantzopoulos P., Quinn M., Desnick R.J. Human α-galactosidase A: nucleotide sequence of a cDNA clone encoding the mature enzyme. Proc. Natl. Acad. Sci. USA. 83:1986;4859-4863.
9. Kornreich R., Bishop D.F., Desnick R.J. The gene encoding α-galactosidase A and gene rearrangements causing Fabry disease. Trans Assoc. Am. Phys. 102:1989;30-43.
10. Desnick R.J., Bernstein H.S., Astrin K.H., Bishop D.F. Fabry disease: molecular diagnosis of hemizygotes and heterozygotes. Enzyme. 38:1987;54-64.
11. Davies J.P., Winchester B.G., Malcolm S. Sequence variations in the first exon of α-galactosidase A. J. Med. Genet. 30:1993;658-663.
12. Eng C.M., Desnick R.J. Molecular basis of Fabry disease: mutations and polymorphisms in the human α-galactosidase A gene. Hum. Mutat. 3:1994;103-111.
13. Fitzmaurice T.F., Desnick R.J., Bishop D.F. Human α-galactosidase A: high plasma activity expressed by the. -30G→A allele J. Inherit. Metab. Dis. 20:1997;643-657.
14. Eng C.M., Resnick-Silverman L.A., Niehaus D.J., Astrin K.H., Desnick R.J. Nature and frequency of mutations in the α-galactosidase A gene that cause Fabry disease. Am. J. Hum. Genet. 53:1993;1186-1197.
15. Guffon N., Froissart R., Chevalier-Porst F., Maire I. Mutation analysis in 11 French patients with Fabry disease. Hum. Mutat. Suppl. 1998;S288-S290.
16. Desnick R.J., Allen K.Y., Desnick S.J., Raman M.K., Bernlohr R.W., Krivit W. Fabry's disease: enzymatic diagnosis of hemizygotes and heterozygotes. α-Galactosidase activities in plasma, serum, urine, and leukocytes. J. Lab. Clin. Med. 81:1973;157-171.
17. Desnick R.J., Sweeley C.C., Krivit W.A. A method for the quantitative determination of glycosphingolipids in urine sediment. J. Lipid Res. 11:1970;31-37.
18. Fujita N., Suzuki K., Vanier M.T., Popko B., Maeda N., Klein A., Henseler M., Sandhoff K., Nakayasu H., Suzuki K. Targeted disruption of the mouse sphingolipid activator protein gene: a complex phenotype, including severe leukodystrophy and wide-spread storage of multiple sphingolipids. Hum. Mol. Genet. 5:1996;711-725.
19. Bernstein H.S., Bishop D.F., Astrin K.H., Kornreich R., Eng C.M., Sakuraba H., Desnick R.J. Fabry disease: six gene rearrangements and an exonic point mutation in the α-galactosidase gene. J. Clin. Invest. 83:1989;1390-1399.
20. Kornreich R., Astrin K.H., Desnick R.J. Amplification of human polymorphic sites in the X-chromosomal region q21.33 to q24: DXS17, DXS87, DXS287, and α-galactosidase A. Genomics. 13:1992;70-74.
21. Caggana M., Ashley G.A., Desnick R.J., Eng C.M. Fabry disease: molecular carrier detection and prenatal diagnosis by analysis of closely linked polymorphisms at Xq22.1. Am. J. Med. Genet. 71:1997;329-335.
22. Allen R.C., Zoghbi H.Y., Moseley A.B., Rosenblatt H.M., Belmont J.W. Methylation of HpaII and HhaI sites near the polymorphic CAG repeat in the human androgen-receptor gene correlates with X chromosome inactivation. Am. J. Hum. Genet. 51:1992;1229-1239.
23. Lemansky P., Bishop D.F., Desnick R.J., Hasilik A., von Figura K. Synthesis and processing of α-galactosidase A in human fibroblasts. Evidence for different mutations in Fabry disease. J. Biol. Chem. 262:1987;2062-2065.
24. Garman S., Garboczi D. Structural basis of Fabry disease. Mol. Genet. Metab. 77:2002;3-11.
25. Gotlib R.W., Bishop D.F., Wang A.M., Zeidner K.M., Ioannou Y.A., Adler D.A., Disteche C.M., Desnick R.J. The entire genomic sequence and cDNA expression of mouse α-galactosidase A. Biochem. Mol. Med. 57:1996;139-148.
26. Wang A.M., Ioannou Y.A., Zeidner K.M., Desnick R.J. Murine α-N-acetylgalactosaminidase: isolation and expression of a full-length cDNA and genomic organization: further evidence of an α-galactosidase gene family. Mol. Genet. Metab. 65:1998;165-173.
27. Miyamura N., Araki E., Matsuda K., Yoshimura R., Furukawa N., Tsuruzoe K., Shirotani T., Kishikawa H., Yamaguchi K., Shichiri M. A carboxy-terminal truncation of human α-galactosidase A in a heterozygous female with Fabry disease and modification of the enzymatic activity by the carboxy-terminal domain. Increased, reduced, or absent enzyme activity depending on number of amino acid residues deleted. J. Clin. Invest. 98:1996;1809-1817.
28. Busque L., Mio R., Mattioli J., Brais E., Blais N., Lalonde Y., Maragh M., Gilliland D.G. Nonrandom X-inactivation patterns in normal females: lyonization ratios vary with age. Blood. 88:1996;59-65.