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

dc.creatorBrusius-Facchin, AC
dc.creatorSchwartz, IVD
dc.creatorZimmer, C
dc.creatorRibeiro, MG
dc.creatorAcosta, AX
dc.creatorHorovitz, D
dc.creatorMonlleo, IL
dc.creatorFontes, MIB
dc.creatorFett-Conte, A
dc.creatorSobrinho, RPO
dc.creatorDuarte, AR
dc.creatorBoy, R
dc.creatorMabe, P
dc.creatorAscurra, M
dc.creatorde Michelena, M
dc.creatorTylee, KL
dc.creatorBesley, GTN
dc.creatorGarreton, MCV
dc.creatorGiugliani, R
dc.creatorLeistner-Segal, S
dc.date2014
dc.dateFEB
dc.date2014-08-01T18:41:10Z
dc.date2015-11-26T17:02:27Z
dc.date2014-08-01T18:41:10Z
dc.date2015-11-26T17:02:27Z
dc.date.accessioned2018-03-28T23:50:32Z
dc.date.available2018-03-28T23:50:32Z
dc.identifierMolecular Genetics And Metabolism. Academic Press Inc Elsevier Science, v. 111, n. 2, n. 133, n. 138, 2014.
dc.identifier1096-7192
dc.identifier1096-7206
dc.identifierWOS:000330746000293
dc.identifier10.1016/j.ymgme.2013.08.011
dc.identifierhttp://www.repositorio.unicamp.br/jspui/handle/REPOSIP/82126
dc.identifierhttp://repositorio.unicamp.br/jspui/handle/REPOSIP/82126
dc.identifier.urihttp://repositorioslatinoamericanos.uchile.cl/handle/2250/1278909
dc.descriptionCoordenação de Aperfeiçoamento de Pessoal de Nível Superior (CAPES)
dc.descriptionConselho Nacional de Desenvolvimento Científico e Tecnológico (CNPq)
dc.descriptionIn 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 literature. (C) 2013 Elsevier Inc. All rights reserved.
dc.description111
dc.description2
dc.description133
dc.description138
dc.descriptionRoscoe Brady program of NORD (National Organization of Rare Disorders)
dc.descriptionCoordenação de Aperfeiçoamento de Pessoal de Nível Superior (CAPES)
dc.descriptionInstitutional FIPE-HCPA funds
dc.descriptionConselho Nacional de Desenvolvimento Científico e Tecnológico (CNPq)
dc.descriptionCoordenação de Aperfeiçoamento de Pessoal de Nível Superior (CAPES)
dc.descriptionConselho Nacional de Desenvolvimento Científico e Tecnológico (CNPq)
dc.languageen
dc.publisherAcademic Press Inc Elsevier Science
dc.publisherSan Diego
dc.publisherEUA
dc.relationMolecular Genetics And Metabolism
dc.relationMol. Genet. Metab.
dc.rightsfechado
dc.rightshttp://www.elsevier.com/about/open-access/open-access-policies/article-posting-policy
dc.sourceWeb of Science
dc.subjectMucopolysaccharidosis type II
dc.subjectGlycosaminoglycans
dc.subjectHunter syndrome
dc.subjectIduronate-2-sulfatase
dc.subjectGenotype-phenotype correlation
dc.subjectIduronate-2-sulfatase Gene-mutations
dc.subjectIduronate Sulfatase Gene
dc.subjectHunter-syndrome Patients
dc.subjectMps Ii
dc.subjectMolecular Analysis
dc.subjectJapanese Patients
dc.subjectIds Gene
dc.subjectDisease
dc.subjectFamilies
dc.subjectSegregation
dc.titleMucopolysaccharidosis type II: Identification of 30 novel mutations among Latin American patients
dc.typeArtículos de revistas


Este ítem pertenece a la siguiente institución