Estimated birth prevalence of mucopolysaccharidoses in Brazil.
birth prevalence
epidemiology
frequency
heterozygosity
mucopolysaccharidoses
Journal
American journal of medical genetics. Part A
ISSN: 1552-4833
Titre abrégé: Am J Med Genet A
Pays: United States
ID NLM: 101235741
Informations de publication
Date de publication:
03 2020
03 2020
Historique:
received:
14
07
2019
revised:
03
11
2019
accepted:
10
11
2019
pubmed:
12
1
2020
medline:
5
1
2021
entrez:
12
1
2020
Statut:
ppublish
Résumé
Several studies have been published on the frequency of the mucopolysaccharidoses (MPS) in different countries. The objective of the present study was to estimate the birth prevalence (BP) of MPS in Brazil. MPS diagnosis registered at MPS-Brazil Network and in Instituto Vidas Raras were reviewed. BP was estimated by (a) the number of registered patients born between 1994 and 2015 was divided by the number of live births (LBs), and (b) a sample of 1,000 healthy individuals was tested for the most frequent variant in IDUA gene in MPS I (p.Trp402Ter) to estimate the frequency of heterozygosity and homozygosity. (a) The BP based on total number of LBs was (cases per 100,000 LBs): MPS overall: 1.25; MPS I: 0.24; MPS II: 0.37; MPS III: 0.21; MPS IV: 0.14; MPS VI: 0.28; MPS VII: 0.02. (b) The overall frequency of p.Trp402Ter was 0.002. Considering the frequency of heterozygotes for the p.Trp402Ter IDUA variant in the RS state, the frequency of this variant among MPS I patients and the relative frequency of the different MPSs, we estimated the birth prevalence of MPS in total and of each MPS type, as follows: MPS overall: 4.62; MPS I: 0.95; MPS II: 1.32; MPS III: 0.56; MPS IV: 0.57; MPS VI: 1.02; MPS VII: 0.05. This study provided original data about BP and relative frequency of the MPS types, in Brazil, based on the frequency of the commonest IDUA pathogenic variant and in the records of two large patient databases.
Identifiants
pubmed: 31926052
doi: 10.1002/ajmg.a.61456
doi:
Substances chimiques
IDUA protein, human
EC 3.2.1.76
Iduronidase
EC 3.2.1.76
Types de publication
Journal Article
Research Support, Non-U.S. Gov't
Langues
eng
Sous-ensembles de citation
IM
Pagination
469-483Subventions
Organisme : Conselho Nacional de Desenvolvimento Científico e Tecnológico
ID : 166712/2014-0
Pays : International
Organisme : Conselho Nacional de Desenvolvimento Científico e Tecnológico
ID : 465549/2014
Pays : International
Organisme : Conselho Nacional de Desenvolvimento Científico e Tecnológico
ID : 573993/2008-4
Pays : International
Organisme : Coordenação de Aperfeiçoamento de Pessoal de Nível Superior
ID : 88887.136366/2017-00
Pays : International
Organisme : Fundação de Amparo à Pesquisa do Estado do Rio Grande do Sul
ID : 16/2014-4
Pays : International
Organisme : Hospital de Clínicas de Porto Alegre
ID : 15-0450
Pays : International
Organisme : Hospital de Clínicas de Porto Alegre
ID : 16-0398
Pays : International
Organisme : Instituto Nacional de Genética Médica Populacional
Pays : International
Informations de copyright
© 2020 Wiley Periodicals, Inc.
Références
Applegarth, D. A., & Toone, J. R. (2000). Incidence of inborn errors of metabolism in British Columbia, 1969-1996. Pediatrics, 105(1), e10-e10.
Azevedo, A. C. M. M., Schwartz, I. V., Kalakun, L., Brustolin, S., Burin, M. G., Beheregaray, A. P. C., … Marinho, D. (2004). Clinical and biochemical study of 28 patients with mucopolysaccharidosis type VI. Clinical Genetics, 66(3), 208-213.
Baehner, F., Schmiedeskamp, C., Krummenauer, F., Miebach, E., Bajbouj, M., Whybra, C., & Beck, M. (2005). Cumulative incidence rates of the mucopolysaccharidoses in Germany. Journal of Inherited Metabolic Disease: Official Journal of the Society for the Study of Inborn Errors of. Metabolism, 28(6), 1011-1017.
Ben, H. T., Tebib, N., Azzouz, H., Abdelmoula, M. S., Ben, A. C., Chemli, J., & Kaabachi, N. (2009). Incidence of mucopolysaccharidoses in Tunisia. La Tunisie Médicale, 87(11), 782-785.
Brasil. (2017). DATASUS: Departamento de Informática do SUS. http://datasus.saude.gov.br/
Burlina, A. B., Polo, G., Salviati, L., Duro, G., Zizzo, C., Dardis, A., … Burlina, A. P. (2018). Newborn screening for lysosomal storage disorders by tandem mass spectrometry in North East Italy. Journal of Inherited Metabolic Disease, 41(2), 209-219.
Cho, S. Y., Sohn, Y. B., & Jin, D. K. (2014). An overview of Korean patients with mucopolysaccharidosis and collaboration through the Asia Pacific MPS network. Intractable & Rare Diseases Research, 3(3), 79-86.
Christianson, A., Howson, C. P., & Modell, B. (2006). Global report on birth defects. New York: White Plains.
Chuang, C.-K., Lin, H.-Y., Wang, T.-J., Huang, Y.-H., Chan, M.-J., Liao, H.-C., … Lin, S.-P. (2018). Status of newborn screening and follow up investigations for Mucopolysaccharidoses I and II in Taiwan. Orphanet Journal of Rare Diseases, 13(1), 84.
Costa-Motta, F. M., Bender, F., Acosta, A., Abé-Sandes, K., Machado, T., Bomfim, T., … Leistner-Segal, S. (2014). A community-based study of mucopolysaccharidosis type VI in Brazil: The influence of founder effect, endogamy and consanguinity. Human Heredity, 77(1-4), 189-196.
Donati, M. A., Pasquini, E., Spada, M., Polo, G., & Burlina, A. (2018). Newborn screening in mucopolysaccharidoses. Italian Journal of Pediatrics, 44(S2), 126.
Federhen, A., Burin, M., Leistner-Segal, S., Matte, U., Tirelli, K., … Facchin, A. (2016). Minimal estimated incidence of MPS I, II, IV-A and VI in Brazil and comparision to the rest of the world. In 14th International Symposium on MPS and Related Diseases (pp. 1-82). Germany: Bonn.
Giugliani, R. (2012). Mucopolysacccharidoses: From understanding to treatment, a century of discoveries. Genetics and Molecular Biology, 35(4), 924-931.
Giugliani, R., Federhen, A., Michelin-Tirelli, K., Riegel, M., & Burin, M. (2017). Relative frequency and estimated minimal frequency of lysosomal storage diseases in Brazil: Report from a reference laboratory. Genetics and Molecular Biology, 40(1), 31-39.
Gómez, A. M., García-Robles, R., & Suárez-Obando, F. (2012). Estimation of the mucopolysaccharidoses frequencies and cluster analysis in the Colombian provinces of Cundinamarca and Boyacá. Biomédica, 32(4), 602-609.
Harris, P. A., Taylor, R., Thielke, R., Payne, J., Gonzalez, N., & Conde, J. G. (2009). Research electronic data capture (REDCap)-A metadata-driven methodology and workflow process for providing translational research informatics support. Journal of Biomedical Informatics, 42(2), 377-381.
Héron, B., Mikaeloff, Y., Froissart, R., Caridade, G., Maire, I., Caillaud, C., … Valayannopoulos, V. (2011). Incidence and natural history of mucopolysaccharidosis type III in France and comparison with United Kingdom and Greece. American Journal of Medical Genetics Part A, 155(1), 58-68.
Hopkins, P. V., Klug, T., Vermette, L., Raburn-Miller, J., Kiesling, J., & Rogers, S. (2018). Incidence of 4 lysosomal storage disorders from 4 years of newborn screening. JAMA Pediatrics, 172(7), 696-697.
Jurecka, A., Ługowska, A., Golda, A., Czartoryska, B., & Tylki-Szymańska, A. (2015). Prevalence rates of mucopolysaccharidoses in Poland. Journal of Applied Genetics, 56(2), 205-210.
Jurecka, A., Zakharova, E., Cimbalistiene, L., Gusina, N., Malinova, V., Różdżyńska-Świątkowska, A., … Tylki-Szymańska, A. (2014). Mucopolysaccharidosis type VI in Russia, Kazakhstan, and central and Eastern Europe. Pediatrics International, 56(4), 520-525.
Khan, S. A., Peracha, H., Ballhausen, D., Wiesbauer, A., Rohrbach, M., Gautschi, M., & Orii, T. (2017). Epidemiology of mucopolysaccharidoses. Molecular Genetics and Metabolism, 121(3), 227-240.
Krabbi, K., Joost, K., Zordania, R., Talvik, I., Rein, R., Huijmans, J. G., & Õunap, K. (2012). The live-birth prevalence of mucopolysaccharidoses in Estonia. Genetic Testing and Molecular Biomarkers, 16(8), 846-849.
Lin, H. Y., Lin, S. P., Chuang, C. K., Niu, D. M., Chen, M. R., Tsai, F. J., & Hwu, W. L. (2009). Incidence of the mucopolysaccharidoses in Taiwan, 1984-2004. American Journal of Medical Genetics Part A, 149(5), 960-964.
Lin, S.-P., Lin, H.-Y., Wang, T.-J., Chang, C.-Y., Lin, C.-H., Huang, S.-F., … Chuang, C.-K. (2013). A pilot newborn screening program for Mucopolysaccharidosis type I in Taiwan. Orphanet Journal of Rare Diseases, 8(1), 147.
Lowry, R. B., Applegarth, D. A., Toone, J. R., MacDonald, E., & Thunem, N. Y. (1990). An update on the frequency of mucopolysaccharide syndromes in British Columbia. Human Genetics, 85(3), 389-390.
Lowry, R. B., & Renwick, D. H. (1971). Relative frequency of the hurler and hunter syndromes. The New England Journal of Medicine, 284(4), 221-222.
Malm, G., Lund, A. M., Månsson, J. E., & Heiberg, A. (2008). Mucopolysaccharidoses in the Scandinavian countries: Incidence and prevalence. Acta Paediatrica, 97(11), 1577-1581.
Marsden, D., & Levy, H. (2010). Newborn screening of Lysosomal storage disorders. Clinical Chemistry, 56(7), 1071-1079.
Meikle, P. J., Hopwood, J. J., Clague, A. E., & Carey, W. F. (1999). Prevalence of lysosomal storage disorders. JAMA, 281(3), 249-254.
Minter Baerg, M. M., Stoway, S. D., Hart, J., Mott, L., Peck, D. S., Nett, S. L., … Rinaldo, P. (2018). Precision newborn screening for lysosomal disorders. Genetics in Medicine, 20(8), 847-854.
Moammar, H., Cheriyan, G., Mathew, R., & Al-Sannaa, N. (2010). Incidence and patterns of inborn errors of metabolism in the Eastern Province of Saudi Arabia, 1983-2008. Annals of Saudi Medicine, 30(4), 271-277.
Moore, D., Connock, M. J., Wraith, E., & Lavery, C. (2008). The prevalence of and survival in Mucopolysaccharidosis I: Hurler, hurler-Scheie and Scheie syndromes in the UK. Orphanet Journal of Rare Diseases, 3(1), 24.
Navarrete-Martínez, J. I., Limón-Rojas, A. E., Gaytán-García, M. d. J., Reyna-Figueroa, J., Wakida-Kusunoki, G., Delgado-Calvillo, M. d. R., … Cervantes-Barragán, D. E. (2017). Newborn screening for six lysosomal storage disorders in a cohort of Mexican patients: Three-year findings from a screening program in a closed Mexican health system. Molecular Genetics and Metabolism, 121(1), 16-21.
Nelson, J. (1997). Incidence of the mucopolysaccharidoses in Northern Ireland. Human Genetics, 101(3), 355-358.
Nelson, J., Crowhurst, J., Carey, B., & Greed, L. (2003). Incidence of the mucopolysaccharidoses in Western Australia. American Journal of Medical Genetics Part A, 123(3), 310-313.
Neufeld, E., & Muenzer, J. (2001). The mucopolysaccharidosis. In C. Scriver, A. Beandet, S. Sly, D. Valle, B. Childs, & K. Kinzler (Eds.), The metabolic and molecular basis of inherited disease (pp. 3421-3452). New York: McGraw-Hill.
Pinto, R., Caseiro, C., Lemos, M., Lopes, L., Fontes, A., Ribeiro, H., … Ribeiro, I. (2004). Prevalence of lysosomal storage diseases in Portugal. European Journal of Human Genetics, 12(2), 87-92.
Poletto, E., Pasqualim, G., Giugliani, R., Matte, U., & Baldo, G. (2018). Worldwide distribution of common IDUA pathogenic variants. Clinical Genetics, 94(1), 95-102. https://doi.org/10.1111/cge.13224
Poorthuis, B. J., Wevers, R. A., Kleijer, W. J., Groener, J. E., de Jong, J. G., Van Weely, S., … Van Diggelen, O. P. (1999). The frequency of lysosomal storage diseases in The Netherlands. Human Genetics, 105(1-2), 151-156.
Poupětová, H., Ledvinová, J., Berná, L., Dvořáková, L., Kožich, V., & Elleder, M. (2010). The birth prevalence of lysosomal storage disorders in The Czech Republic: Comparison with data in different populations. Journal of Inherited Metabolic Disease, 33(4), 387-396.
Puckett, Y., Bui, E., Zelicoff, A., & Montano, A. (2017). Epidemiology of mucopolysaccharidoses (MPS) in the United States: Challenges and opportunities. Molecular Genetics and Metabolism, 1(120), S111.
Santos, S., Kok, F., Weller, M., Paiva, F. R. L. D., & Otto, P. A. (2010). Inbreeding levels in Northeast Brazil: Strategies for the prospecting of new genetic disorders. Genetics and Molecular Biologyolecular Biology, 33(2), 220-223.
Schaap, T., & Bach, G. (1980). Incidence of mucopolysaccharidoses in Israel: Is hunter disease a “Jewish disease”? Human Genetics, 56(2), 221-223.
Scott, C. R., Elliott, S., Buroker, N., Thomas, L. I., Keutzer, J., Glass, M., … Turecek, F. (2013). Identification of infants at risk for developing fabry, pompe, or Mucopolysaccharidosis-I from newborn blood spots by tandem mass spectrometry. The Journal of Pediatrics, 163(2), 498-503.
Vieira, T., Schwartz, I., Munoz, V., Pinto, L., Steiner, C., Ribeiro, M., … Acosta, A. (2008). Mucopolysaccharidoses in Brazil: What happens from birth to biochemical diagnosis? American Journal of Medical Genetics Part A, 146(13), 1741-1747.
Weller, M., Tanieri, M., Pereira, J. C., Almeida, E. D. S., Kok, F., & Santos, S. (2012). Consanguineous unions and the burden of disability: A population-based study in communities of northeastern Brazil. American Journal of Human Biology, 24(6), 835-840.
Young, I. D., & Harper, P. S. (1982). Incidence of Hunter's syndrome. Human Genetics, 60(4), 391-392.