Mucopolysaccharidosis Type Ii: Identification Of 30 Novel Mutations Among Latin American Patients.

dc.creatorBrusius-Facchin, A C
dc.creatorSchwartz, I V D
dc.creatorZimmer, C
dc.creatorRibeiro, M G
dc.creatorAcosta, A X
dc.creatorHorovitz, D
dc.creatorMonlleó, I L
dc.creatorFontes, M I B
dc.creatorFett-Conte, A
dc.creatorSobrinho, R P Oliveira
dc.creatorDuarte, A R
dc.creatorBoy, R
dc.creatorMabe, P
dc.creatorAscurra, M
dc.creatorde Michelena, M
dc.creatorTylee, K L
dc.creatorBesley, G T N
dc.creatorGarreton, M C V
dc.creatorGiugliani, R
dc.creatorLeistner-Segal, S
dc.date2014-Feb
dc.date2015-11-27T13:42:40Z
dc.date2015-11-27T13:42:40Z
dc.date.accessioned2018-03-29T01:20:58Z
dc.date.available2018-03-29T01:20:58Z
dc.identifierMolecular Genetics And Metabolism. v. 111, n. 2, p. 133-8, 2014-Feb.
dc.identifier1096-7206
dc.identifier10.1016/j.ymgme.2013.08.011
dc.identifierhttp://www.ncbi.nlm.nih.gov/pubmed/24125893
dc.identifierhttp://repositorio.unicamp.br/jspui/handle/REPOSIP/201452
dc.identifier24125893
dc.identifier.urihttp://repositorioslatinoamericanos.uchile.cl/handle/2250/1301685
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.
dc.description111
dc.description133-8
dc.languageeng
dc.relationMolecular Genetics And Metabolism
dc.relationMol. Genet. Metab.
dc.rightsfechado
dc.rights© 2013.
dc.sourcePubMed
dc.subjectAdult
dc.subjectExons
dc.subjectFemale
dc.subjectGenetic Association Studies
dc.subjectGenotyping Techniques
dc.subjectHumans
dc.subjectIduronate Sulfatase
dc.subjectMucopolysaccharidosis Ii
dc.subjectMutation
dc.subjectSequence Analysis, Dna
dc.subjectSeverity Of Illness Index
dc.subjectSouth America
dc.subjectGenotype–phenotype Correlation
dc.subjectGlycosaminoglycans
dc.subjectHunter Syndrome
dc.subjectIduronate-2-sulfatase
dc.subjectMucopolysaccharidosis Type Ii
dc.titleMucopolysaccharidosis Type Ii: Identification Of 30 Novel Mutations Among Latin American Patients.
dc.typeArtículos de revistas


Este ítem pertenece a la siguiente institución