Artículos de revistas
Mucopolysaccharidosis Type Ii: Identification Of 30 Novel Mutations Among Latin American Patients
Registro en:
Molecular Genetics And Metabolism. , v. 111, n. 2, p. 133 - 138, 2014.
10967192
10.1016/j.ymgme.2013.08.011
2-s2.0-84893664730
Autor
Brusius-Facchin A.C.
Schwartz I.V.D.
Zimmer C.
Ribeiro M.G.
Acosta A.X.
Horovitz D.
Monlleo I.L.
Fontes M.I.B.
Fett-Conte A.
Sobrinho R.P.O.
Duarte A.R.
Boy R.
Mabe P.
Ascurra M.
de Michelena M.
Tylee K.L.
Besley G.T.N.
Garreton M.C.V.
Giugliani R.
Leistner-Segal S.
Institución
Resumen
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. © 2013 Elsevier Inc. 111 2 133 138 Neufeld, E.F., Muenzer, J., The mucopolysaccharidoses (2001) The Metabolic and Molecular Basis of Inherited Disease, pp. 1191-1211. , McGraw-Hill, New York, C.R. Scriver, A.L. Beaudet, W.S. Sly, D. Valle (Eds.) Wilson, J., Morris, C.P., Anson, D.S., Occhiodoro, T., Bielick, J., Clements, P.R., Hopwood, J.J., Hunter syndrome: isolation of an iduronate-2-sulfatase cDNA clone and analysis of patient DNA (1990) Proc. Natl. Acad. Sci. U. S. 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