Newborn screening for Fabry disease in Japan: Prevalence and genotypes of Fabry disease in a pilot study

Journal of Human Genetics

Volumn 58, Issue 8, 2013, Pages 548-552

  Inoue, Takahito ^a   Hattori, Kiyoko ^b   Ihara, Kenji ^c   Ishii, Atsushi ^a   Nakamura, Kimitoshi ^b   Hirose, Shinichi ^a  

^a FUKUOKA UNIVERSITY   (Japan)

^b KUMAMOTO UNIVERSITY   (Japan)

^c KYUSHU UNIVERSITY   (Japan)

Author keywords

[No Author keywords available]

Indexed keywords

ALPHA GALACTOSIDASE;

ARTICLE; DRIED BLOOD SPOT TESTING; ENZYME ACTIVITY; FABRY DISEASE; FEMALE; FLUORESCENCE ANALYSIS; FOLLOW UP; GALACTOSIDASE GENE; GENE; GENE MUTATION; GENETIC SCREENING; GENOTYPE; HUMAN; JAPAN; LEUKOCYTE; MAJOR CLINICAL STUDY; MALE; NEWBORN; NEWBORN SCREENING; PATHOGENESIS; PILOT STUDY; PREVALENCE;

FABRY DISEASE; FEMALE; GENOTYPE; HUMANS; INFANT, NEWBORN; JAPAN; MALE; NEONATAL SCREENING; PILOT PROJECTS;

EID: 84883270482     PISSN: 14345161     EISSN: 1435232X     Source Type: Journal    
DOI: 10.1038/jhg.2013.48     Document Type: Article

References (33)

1. Desnick, R. J., Ioannou, Y. A. & Eng, C. M. Alpha-galactosidase A Deficiency: Fabry Disease, in The Metabolic and Molecular Bases of Inherited Disease. 8th edn (eds Scriver, C ., Beaudet, A. L., Sly, W. S. & Valle, D.) 3733-3774 (McGraw-Hill, New York, NY, 2001)
2. Mehta, A., Beck, M., Eyskens, F., Feliciani, C., Kantola, I., Ramaswami, U. et al. Fabry disease: a review of current management strategies. QJM. 103, 641-659 (2010)
3. Nakamura, K., Hattori, K. & Endo, F. Newborn screening for lysosomal storage disorders. Am. J. Med. Genet. C. Semin. Med. Genet. 157, 63-71 (2011)
4. Ramaswami, U., Whybra, C., Parini, R., Pintos-Morell, G., Mehta, A., Sunder-Plassmann, G. et al. Clinical manifestations of Fabry disease in children: data from the Fabry Outcome Survey. Acta. Paediatr. 95, 86-92 (2006)
5. Eng, C. M., Fletcher, J., Wilcox, W. R., Waldek, S., Scott, C. R., Sillence, D. O. et al. Fabry disease: baseline medical characteristics of a cohort of 1765 males and females in the Fabry Registry. J. Inherit. Metab. Dis. 30, 184-192 (2007)
6. Matsuzawa, F., Aikawa, S., Doi, H., Okumiya, T. & Sakuraba, H. Fabry disease: correlation between structural changes in alpha-galactosidase, and clinical and biochemical phenotypes. Hum. Genet. 117, 317-328 (2005)
7. Eng, C. M., Guffon, N., Wilcox, W. R., Germain, D. P., Lee, P., Waldek, S. et al. Safety and efficacy of recombinant human alpha-galactosidase A - replacement therapy in Fabry's disease. N. Engl. J. Med. 345, 9-16 (2001)
8. Schiffmann, R., Kopp, J. B., Austin, H. A. 3rd, Sabnis, S., Moore, D ., Weibel, T. et al. Enzyme replacement therapy in Fabry disease: a randomized controlled trial. JAMA 285, 2743-2749 (2001)
9. Beck, M., Ricci, R., Widmer, U., Dehout, F., de Lorenzo, A. G., Kampmann, C. et al. Fabry disease: overall effects of agalsidase alfa treatment. Eur. J. Clin. Invest. 34, 838-844 (2004)
10. Wilcox, W. R., Banikazemi, M., Guffon, N., Waldek, S., Lee, P., Linthorst, G. E. et al. Long-term safety and efficacy of enzyme replacement therapy for Fabry disease. Am. J. Hum. Genet. 75, 65-74 (2004)
11. Banikazemi, M., Bultas, J., Waldek, S., Wilcox, W. R., Whitley, C. B., McDonald, M. et al. Agalsidase-beta therapy for advanced Fabry disease: a randomized trial. Ann. Intern. Med. 146, 77-86 (2007)
12. Weidemann, F., Breunig, F., Beer, M., Sandstede, J., Turschner, O., Voelker, W. et al. Improvement of cardiac function during enzyme replacement therapy in patients with Fabry disease: a prospective strain rate imaging study. Circulation 108, 1299-1301 (2003)
13. Chamoles, N. A., Blanco, M. & Gaggioli, D. Fabry disease: enzymatic diagnosis in dried blood spots on filter paper. Clin. Chim. Acta. 308, 195-196 (2001)
14. Nakamura, K., Sekijima, Y., Nakamura, K., Hattori, K., Nagamatsu, K., Shimizu, Y. et al. Cerebral hemorrhage in Fabry's disease. J. Hum. Genet. 55, 259-261 (2010)
15. Shabbeer, J., Yasuda, M., Luca, E. & Desnick, R. J. Fabry disease: 45 novel mutations in the alpha-galactosidase A gene causing the classical phenotype. Mol. Genet. Metab. 76, 23-30 (2002)
16. Ishii, S., Nakao, S., Minamikawa-Tachino, R., Desnick, R. J. & Fan, J. Q. Alternative splicing in the alpha-galactosidase A gene: increased exon inclusion results in the Fabry cardiac phenotype. Am. J. Hum. Genet. 70, 994-1002 (2002)
17. Hwu, W. L., Chien, Y. H., Lee, N. C., Chiang, S. C., Dobrovolny, R., Huang, A. C. et al. Newborn screening for Fabry disease in Taiwan reveals a high incidence of the lateronset GLA mutation c.936919G4A (IVS4919G4A) Hum utat. 30, 1397-1405 (2009)
18. Lee, B. H., Heo, S. H., Kim, G.-W., Park, J.-Y., Kim, W.-S., Kang, D. H. et al. Mutations of the GLA gene in Korean patients with Fabry disease and frequency of the E66Q allele as a functional variant in Korean newborns Hum. Genet. 55, 512-517 (2010)
19. Togawa, T., Tsukimura, T., Kodama, T., Tanaka, T., Kawashima, I., Saito, S. et al. Fabry disease: Biochemical, pathological and structural studies of the a-galactosidase A with E66Q amino acid substitutionol. Genet. Metab. 105, 615-620 (2012)
20. Davies, J. P., Winchester, B. G. & Malcolm, S. Sequence variations in the first exon of alpha-galactosidase A. J. Med. Genet. 30, 658-663 (1993)
21. Oliveira, J. P., Ferreira, S., Reguenga, C., Carvalho, F. & Mansson, J. E. The g.1170C4T polymorphism of the 50 untranslated region of the human alphagalactosidase gene is associated with decreased enzyme expression - evidence from a family study. J. Inherit. Metab. Dis. 31, S405-S413 (2008)
22. Oliveira, J. P., Ferreira, S., Barceló, J., Gaspar, P., Carvalho, F., Sá Miranda, M. C. et al. Effect of single-nucleotide polymorphisms of the 50 untranslated region of the human a-galactosidase gene on enzyme activity, and their frequencies in Portuguese caucasians. J. Inherit. Metab. Dis. 31, S247-S253 (2008)
23. Spada, M., Pagliardini, S., Yasuda, M., Tukel, T., Thiagarajan, G., Sakuraba, H. et al. High incidence of later-onset Fabry disease revealed by newborn screening. Am. J. Hum. Genet. 79, 31-40 (2006)
24. Mechtler, T. P., Stary, S., Metz, T. F., De Jesú s, V. R., Greber-Platzer, S., Pollak, A. et al. Neonatal screening for lysosomal storage disorders: feasibility and incidence from a nationwide study in Austria. Lancet 379, 335-341 (2012)
25. Ross, L. F. Newborn screening for lysosomal storage diseases: an ethical and policy analysis. J. Inherit. Metab. Dis. 35, 627-634 (2012)
26. Ries, M., Clarke, J. T., Whybra, C., Timmons, M., Robinson, C., Schlaggar, B. L. et al. Enzyme-replacement therapy with agalsidase alfa in children with Fabry disease. Pediatrics 118, 924-932 (2006)
27. Ries, M., Clarke, J. T., Whybra, C., Mehta, A., Loveday, K. S., Brady, R. O. et al. Enzyme replacement in Fabry disease: pharmacokinetics and pharmacodynamics of agalsidase alpha in children and adolescents. J. Clin. Pharmacol. 47, 1222-1230 (2007)
28. Schiffmann, R., Martin, R. A., Reimschisel, T., Johnson, K., Castaneda, V., Lien, Y. H. et al. Four-year prospective clinical trial of agalsidase alfa in children with Fabry disease. J. Pediatr. 156, 832-837 (2010)
29. Ramaswami, U., Wendt, S., Pintos-Morell, G., Parini, R., Whybra, C., Leon Leal, J. A. et al. Enzyme replacement therapy with agalsidase alfa in children with Fabry disease. Acta. Paediatr. 96, 122-127 (2007)
30. Ramaswami, U. Update on role of agalsidase alfa in management of Fabry disease. Drug Des. Devel. Ther. 5, 155-173 (2011)
31. The Japanese Association of Medical Sciences ''Guidelines for Genetic Tests and Diagnoses in Medical Practice'' http://jams.med.or.jp/guideline/ genetics-diagnosis- e.pdf.
32. Martins, A. M., Valadares, E. R., Porta, G., Coelho, J., Semionato Filho, J., Pianovski, M. A. et al. Recommendations on diagnosis, treatment, and monitoring for Gaucher disease. J. Pediatr. 155, S10-S18 (2009)
33. Cupler, E. J., Berger, K. I., Leshner, R. T., Wolfe, G. I., Han, J. J., Barohn, R. J. et al. Consensus treatment recommendations for late-onset Pompe disease. Muscle Nerve 45, 319-333 (2012)