| Author | Motta, Fabiana Maia Moura Costa | |
| Author | Bender, Fernanda | |
| Author | Acosta, Angelina Xavier | |
| Author | Abe-Sandes, Kiyoko | |
| Author | Machado, Taísa | |
| Author | Bomfim, Thais Ferreira | |
| Author | Boa Sorte, Tatiana Regia Suzana Amorim | |
| Author | Silva, Danniel da | |
| Author | Bittles, Alan | |
| Author | Giugliani, Roberto | |
| Author | Leistner-Segal, Sandra | |
| Access date | 2014-08-20T12:12:01Z | |
| Available date | 2014-08-20T12:12:01Z | |
| Document date | 2014 | |
| Citation | COSTA-MOTTA, F. M. et al. A Community-based study of mucopolysaccharidosis type VI in Brazil: the influence of founder effect, endogamy and consanguinity. Human Heredity, v. 77, n. 1-4, p. 189-196, 2014. | pt_BR |
| ISSN | 1423-0062 | |
| URI | https://www.arca.fiocruz.br/handle/icict/8210 | |
| Language | eng | pt_BR |
| Publisher | S. Karger AG, Basel | pt_BR |
| Rights | open access | pt_BR |
| Title | A Community-based study of mucopolysaccharidosis type VI in Brazil: the influence of founder effect, endogamy and consanguinity. | pt_BR |
| Type | Article | pt_BR |
| DOI | 10.1159/000358404 | |
| Abstract | Mucopolysaccharidosis type VI (MPS VI - Maroteaux-Lamy syndrome) is a globally rare lysosomal storage disease caused by a deficiency of arylsulfatase B. However, in Monte Santo, a poor and isolated rural region in Northeast Brazil with large family sizes and high rates of community endogamy and parental consanguinity (α = 0.00483), 9 living and 4 now deceased individuals in 11 kindreds have been diagnosed with MPS VI, all with the same p.H178L missense founder mutation. A further 33 deceased persons have been identified by family members as exhibiting the disease phenotype. Detailed pedigrees were constructed for the 13 genomically confirmed MPS VI patients, with blood samples collected from 236 unaffected family members to determine the prevalence of the p.H178L mutation. A total of 98 (20.8%) mutant alleles and 374 (79.2%) normal alleles were identified, with 41.5% of the individuals heterozygous for the p.H178L mutation and 58.5% homozygous for the normal allele. A significant number of other family members with a 50 or 25% chance of being heterozygous for the p.H178L mutation were unavailable for testing. The data indicate a compelling case for community-based neonatal screening in conjunction with further initiatives among MPS VI family members to promote genetic education and genetic counselling. | pt_BR |
| Affilliation | Medical Genetics Service. Hospital de Clínicas de Porto Alegre. Porto Alegre, RS, Brasil / Postgraduate Program in Medicine. Medical Sciences. UFRGS. Porto Alegre, RS, Brasil / Catholic University of Pelotas. Pelotas, RS, Brasil | pt_BR |
| Affilliation | Medical Genetics Service. Hospital de Clínicas de Porto Alegre. Porto Alegre, RS, Brasil / Postgraduate Program in Medicine. Medical Sciences. UFRGS. Porto Alegre, RS, Brasil | pt_BR |
| Affilliation | National Institute on Population Medical Genetics – INAGEMP. Porto Alegre, RS, Brasil / Fundação Oswaldo Cruz. Centro de Pesquisa Gonçalo Moniz. Laboratório Avançado de Saúde Pública. Salvador, BA, Brasil / Universidade Federal da Bahia. Bahia School of Medicine,. Salvador, BA, Brasil / Murdoch University. Centre for Comparative Genomics. Perth, Australia | pt_BR |
| Affilliation | National Institute on Population Medical Genetics – INAGEMP. Porto Alegre, RS, Brasil / Fundação Oswaldo Cruz. Centro de Pesquisa Gonçalo Moniz. Laboratório Avançado de Saúde Pública. Salvador, BA, Brasil / Universidade do Estado da Bahia. Salvador, BA, Brasil / Universidade Federal da Bahia. Instituto de Ciências da Saúde. Laboratory of Immunology and Molecular Biology. Salvador, BA, Brasil | pt_BR |
| Affilliation | Fundação Oswaldo Cruz. Centro de Pesquisa Gonçalo Moniz. Laboratório Avançado de Saúde Pública. Salvador, BA, Brasil / Universidade Federal da Bahia. Instituto de Ciências da Saúde. Laboratory of Immunology and Molecular Biology. Salvador, BA, Brasil | pt_BR |
| Affilliation | Fundação Oswaldo Cruz. Centro de Pesquisa Gonçalo Moniz. Laboratório Avançado de Saúde Pública. Salvador, BA, Brasil / Universidade Federal da Bahia. Instituto de Ciências da Saúde. Laboratory of Immunology and Molecular Biology. Salvador, BA, Brasil | pt_BR |
| Affilliation | Bahia School of Medicine and Public Health. FBDC. Salvador, BA, Brasil / Association of Parents and Friends of Exceptional from Salvador. APAE, Salvador, BA, Brasil | pt_BR |
| Affilliation | Fundação Oswaldo Cruz. Centro de Pesquisa Gonçalo Moniz. Laboratório Avançado de Saúde Pública. Salvador, BA, Brasil | pt_BR |
| Affilliation | Murdoch University. Centre for Comparative Genomics. Perth, Australia / School of Medical Sciences. Edith Cowan University. Perth, Australia | pt_BR |
| Affilliation | Medical Genetics Service. Hospital de Clínicas de Porto Alegre. Porto Alegre, RS, Brasil / National Institute on Population Medical Genetics – INAGEMP. Porto Alegre, RS, Brasil / Universidade Federal do Rio Grande do Sul. Department of Genetics. Porto Alegre, RS, Brasil | pt_BR |
| Affilliation | Medical Genetics Service. Hospital de Clínicas de Porto Alegre. Porto Alegre, RS, Brasil / Postgraduate Program in Medicine. Medical Sciences. UFRGS. Porto Alegre, RS, Brasil | pt_BR |
| Subject | Consanguinity | pt_BR |
| Subject | Founder effect | pt_BR |
| Subject | Genetic counselling | pt_BR |
| Subject | Mucopolysaccharidosis VI | pt_BR |
