Contribution of genotyping in Fabry's disease;Apports du génotypage dans la maladie de Fabry

Revue de Medecine Interne

Volumn 31, Issue SUPPL. 2, 2010, Pages

  Froissart, R ^a   Piraud, M ^a   Maire, I ^a  

^a HOSPICES CIVILS DE LYON   (France)

Author keywords

Alpha galactosidase A; Fabry's disease; GLA gene

Indexed keywords

ALPHA GALACTOSIDASE; GLOBOTRIAOSYLCERAMIDE;

ARTICLE; DIAGNOSTIC ACCURACY; DISEASE COURSE; ENZYME ACTIVITY; EPIGENETICS; FABRY DISEASE; FEMALE; GENOTYPE; GENOTYPE PHENOTYPE CORRELATION; HETEROZYGOTE; HUMAN; MAJOR CLINICAL STUDY; MALE; MISSENSE MUTATION; MOLECULAR GENETICS; MUTATIONAL ANALYSIS; PEDIGREE ANALYSIS; PHENOTYPIC VARIATION; URINALYSIS;

EID: 78650726682     PISSN: 02488663     EISSN: 17683122     Source Type: Journal    
DOI: 10.1016/S0248-8663(10)70027-8     Document Type: Article

References (13)

1. Bishop D.F., Kornreich R., Desnick R.J. Structural organization of the human alpha-galactosidase A gene: further evidence for the absence of a 3' untranslated region. Proc Natl Acad Sci U S A 1988, 85:3903-3907.
2. Desnick R.J., Ioannou Y., Eng C.M. Alpha-galactosidase A deficiency: Fabry Disease. The Metabolic and Molecular Bases of Inherited Disease 2001, 3:3733-3774. Mc GrawHill, New York. 8th ed.
3. Schaefer E., Mehta A., Gal A. Genotype and phenotype in Fabry disease: analysis of the Fabry Outcome Survey. Acta Paediatr Suppl 2005, 94:87-92.
4. Shabbeer J., Yasuda M., Benson S.D., Desnick R.J. Fabry disease: identification of 50 novel alpha-galactosidase A mutations causing the classic phenotype and three-dimensional structural analysis of 29 missense mutations. Hum Genomics 2006, 2:297-309.
5. Bernstein H.S., Bishop D.F., Astrin K.H., Kornreich R., Eng C.M., Sakuraba H., et al. Fabry disease: six gene rearrangements and an exonic point mutation in the alpha-galactosidase gene. J Clin Invest 1989, 83:1390-1399.
6. Schirinzi A., Centra M., Prattichizzo C., Gigante M., De Fabritiis M., Giancaspro V., et al. Identification of GLA gene deletions in Fabry patients by Multiplex Ligation-dependent Probe Amplification (MLPA). Mol Genet Metab 2008, 94:382-385.
7. Eng C.M., Resnick-Silverman L.A., Niehaus D.J., Astrin K.H., Desnick R.J. Nature and frequency of mutations in the alpha-galactosidase A gene that cause Fabry disease. Am J Hum Genet 1993, 53:1186-1197.
8. Froissart R., Guffon N., Vanier M.T., Desnick R.J., Maire I. Fabry disease: D313Y is an alpha-galactosidase A sequence variant that causes pseudodeficient activity in plasma. Mol Genet Metab 2003, 80:307-314.
9. Yasuda M., Shabbeer J., Benson S.D., Maire I., Burnett R.M., Desnick R.J. Fabry disease: characterization of alpha-galactosidase A double mutations and the D313Y plasma enzyme pseudodeficiency allele. Hum Mutat 2003, 22:486-492.
10. Hoffmann B., Georg Koch H., Schweitzer-Krantz S., Wendel U., Mayatepek E. Deficient alpha-galactosidase A activity in plasma but no Fabry disease: a pitfall in diagnosis. Clin Chem Lab Med 2005, 43:1276-1277.
11. Miyamura N., Araki E., Matsuda K., Yoshimura R., Furukawa N., Tsuruzoe K., et al. A carboxy-terminal truncation of human alpha-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 1996, 98:1809-1817.
12. Young E., Mills K., Morris P., Vellodi A., Lee P., Waldek S., et al. Is globotriaosylceramide a useful biomarker in Fabry disease?. Acta Paediatr Suppl 2005, 94:51-54.
13. Garman S.C. Structure-function relationships in alpha-galactosidase A. Acta Paediatr Suppl 2007, 96:6-16.