LC/MS/MS measurement of glycosaminoglycans in amniotic fluid of a MPS VII fetus

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Mucopolysaccharidosis type II: identification of 30 novel mutations among Latin American patients

In this study, 103 unrelated South-American patients with mucopolysaccharidosis type II (MPS II) were investigated aiming at the identification of iduronate-2-sulfatase (IDS) disease causing mutations and the possibility of some insights on the genotype-phenotype correlation The strategy used for genotyping involved the identification of the previously reported inversion/disruption of the IDS gene by PCR and screening for other mutations by PCR/SSCP. The exons with altered mobility on SSCP were sequenced, as well as all the exons of patients with no SSCP alteration. By using this strategy, we were able to find the pathogenic mutation in all patients. Alterations such as inversion/disruption and partial/total deletions of the IDS gene were found in 20/103 (19%) patients. Small insertions/deletions/indels (<22 bp) and point mutations were identified in 83/103 (88%) patients, including 30 novel mutations; except for a higher frequency of small duplications in relation to small deletions, the frequencies of major and minor alterations found in our sample are in accordance with those described in the literature1112133138CONSELHO NACIONAL DE DESENVOLVIMENTO CIENTÍFICO E TECNOLÓGICO - CNPQCOORDENAÇÃO DE APERFEIÇOAMENTO DE PESSOAL DE NÍVEL SUPERIOR - CAPESRoscoe Brady program of NORD (National Organization of Rare Disorders); Institutional FIPE-HCPA fund

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Made available in DSpace on 2015-06-08T14:06:19Z (GMT). No. of bitstreams: 2 Mucopolysaccharidosis type II Identification of 30 novel mutations among Latin American patients.pdf: 188876 bytes, checksum: ae8b735010afc03b6cf726def963e227 (MD5) license.txt: 1914 bytes, checksum: 7d48279ffeed55da8dfe2f8e81f3b81f (MD5) Previous issue date: 2014Hospital de Clínicas de Porto Alegre. Serviço de Genética Médica. Porto Alegre, RS, Brasil.Universidade Federal do Rio Grande do Sul. Programa de Pós-Graduação em Ciências Médicas. Porto Alegre, RS, Brasil / Universidade Federal do Rio Grande do Sul. Departamento de Genética. Porto Alegre, RS, Brasil / Hospital de Clínicas de Porto Alegre. Serviço de Genética Médica. Porto Alegre, RS, Brasil.Hospital de Clínicas de Porto Alegre. Serviço de Genética Médica. Porto Alegre, RS, Brasil.Universidade Federal do Rio de Janeiro. Instituto de Puericultura e Pediatria Martagão Gesteira. Serviço de Genética. Rio de Janeiro, RJ, Brasil.Universidade Federal da Bahia. Departamento de Pediatria. Salvador, BA, Brasil.Fundação Oswaldo Cruz. Instituto Fernandes Figueira. Rio de Janeiro, RJ, Brasil.Universidade Estadual de Ciências da Saúde de Alagoas. Departamento de Pediatria. Maceió, AL, Brasil.Universidade Estadual de Ciências da Saúde de Alagoas. Departamento de Pediatria. Maceió, AL, Brasil.Faculdade de Medicina de São José do Rio Preto. Departamento de Biologia Molecular. São José do Rio Preto, SP, Brasil.Universidade Estadual de Campinas. Departamento de Genética Médica. Campinas, SP, Brasil.Instituto de Medicina Integral Professor Fernando Figueira. Serviço de Genética Médica. Recife, PE, Brasil.Universidade do Estado do Rio de Janeiro. Departamento Mãe e Criança. Rio de Janeiro, RJ, Brasil.University of Chile. International Trademark Association. Genetics and Metabolic Diseases Unit. Chile.ILCS-UNA. Department of Genetics. Asunción, Paraguay.Universidad Peruana Cayetano Heredia. Lima, Peru.Royal Manchester Children's Hospital. Willink Biochemical Genetics Unit. Manchester, UK.Hospital Roberto del Río. Unidad de Genética Clínica. Santiago, Chile.Universidade Federal do Rio Grande do Sul. Programa de Pós-Graduação em Ciências Médicas. Porto Alegre, RS, Brasil. / Universidade Federal do Rio Grande do Sul. Departamento de Genética. Porto Alegre, RS, Brasil. / Hospital de Clínicas de Porto Alegre. Serviço de Genética Médica. Porto Alegre, RS, Brasil.Universidade Federal do Rio Grande do Sul. Programa de Pós-Graduação em Ciências Médicas. Porto Alegre, RS, Brasil. / Universidade Federal do Rio Grande do Sul. Departamento de Genética. Porto Alegre, RS, Brasil. / Hospital de Clínicas de Porto Alegre. Serviço de Genética Médica. Porto Alegre, RS, Brasil.In this study, 103 unrelated South-American patients with mucopolysaccharidosis type II (MPS II) were investi-gated aiming at the identification of iduronate-2-sulfatase (IDS) disease causing mutations and the possibility of some insights on the genotype–phenotype correlation The strategy used for genotyping involved the identifica-tion of the previously reported inversion/disruption of theIDSgene by PCR and screening for othermutations by PCR/SSCP. The exons with altered mobility on SSCP were sequenced, as well as all the exons of patients with no SSCP alteration. By using this strategy, we were able tofind the pathogenic mutation in all patients. Alterations such as inversion/disruption and partial/total deletions of theIDS gene were found in 20/103 (19%) patients. Small insertions/deletions/indels (b22 bp) andpointmutationswere identified in83/103 (88%) patients, includ-ing 30 novel mutations; except for a higher frequency of small duplications in relation to small deletions, the fre-quencies of major and minor alterations found in our sample are in accordance with those described in the literature