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

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dc.contributor.author Brusius-Facchin, A. C.
dc.contributor.author Schwartz, I. V. D.
dc.contributor.author Zimmer, C.
dc.contributor.author Ribeiro, M. G.
dc.contributor.author Acosta, A. X.
dc.contributor.author Horovitz, D.
dc.contributor.author Monlleo, I. L.
dc.contributor.author Fontes, M. I. B.
dc.contributor.author Fett-Conte, A.
dc.contributor.author Sobrinho, R. P. Oliveira
dc.contributor.author Duarte, A. R.
dc.contributor.author Boy, R.
dc.contributor.author Mabe, P.
dc.contributor.author Ascurra, M.
dc.contributor.author de Michelena, M.
dc.contributor.author Tylee, K. L.
dc.contributor.author Besley, G. T. N.
dc.contributor.author Garreton, M. C. V.
dc.contributor.author Giugliani, R.
dc.contributor.author Leistner-Segal, S.
dc.date.accessioned 2020-06-10T18:12:14Z
dc.date.available 2020-06-10T18:12:14Z
dc.date.issued 2013
dc.identifier.uri https://hdl.handle.net/20.500.12866/8060
dc.description.abstract 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 literature. en_US
dc.language.iso eng
dc.publisher Elsevier
dc.relation.ispartof urn:issn:1096-7206
dc.rights info:eu-repo/semantics/restrictedAccess
dc.rights.uri https://creativecommons.org/licenses/by-nc-nd/4.0/deed.es
dc.subject Adult en_US
dc.subject Female en_US
dc.subject Humans en_US
dc.subject South America en_US
dc.subject Severity of Illness Index en_US
dc.subject Sequence Analysis, DNA en_US
dc.subject Genetic Association Studies en_US
dc.subject Genotyping Techniques en_US
dc.subject Exons en_US
dc.subject Mutation en_US
dc.subject Genotype-phenotype correlation en_US
dc.subject Glycosaminoglycans en_US
dc.subject Hunter syndrome en_US
dc.subject Iduronate Sulfatase/genetics en_US
dc.subject Iduronate-2-sulfatase en_US
dc.subject Mucopolysaccharidosis II/diagnosis/genetics/pathology en_US
dc.subject Mucopolysaccharidosis type II en_US
dc.title Mucopolysaccharidosis type II: identification of 30 novel mutations among Latin American patients en_US
dc.type info:eu-repo/semantics/article
dc.identifier.doi https://doi.org/10.1016/j.ymgme.2013.08.011
dc.subject.ocde https://purl.org/pe-repo/ocde/ford#3.02.00 es_PE
dc.subject.ocde https://purl.org/pe-repo/ocde/ford#1.06.07
dc.subject.ocde https://purl.org/pe-repo/ocde/ford#3.02.18


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