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.creatorMonlleo I.L.
dc.creatorFontes M.I.B.
dc.creatorFett-Conte A.
dc.creatorSobrinho R.P.O.
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
dc.date2015-06-25T17:51:15Z
dc.date2015-11-26T15:40:49Z
dc.date2015-06-25T17:51:15Z
dc.date2015-11-26T15:40:49Z
dc.date.accessioned2018-03-28T22:49:17Z
dc.date.available2018-03-28T22:49:17Z
dc.identifier
dc.identifierMolecular Genetics And Metabolism. , v. 111, n. 2, p. 133 - 138, 2014.
dc.identifier10967192
dc.identifier10.1016/j.ymgme.2013.08.011
dc.identifierhttp://www.scopus.com/inward/record.url?eid=2-s2.0-84893664730&partnerID=40&md5=643c596cdad9799dbfd0fda3129519a7
dc.identifierhttp://www.repositorio.unicamp.br/handle/REPOSIP/86015
dc.identifierhttp://repositorio.unicamp.br/jspui/handle/REPOSIP/86015
dc.identifier2-s2.0-84893664730
dc.identifier.urihttp://repositorioslatinoamericanos.uchile.cl/handle/2250/1264462
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. © 2013 Elsevier Inc.
dc.description111
dc.description2
dc.description133
dc.description138
dc.descriptionNeufeld, 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.)
dc.descriptionWilson, 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. A., 87, pp. 8531-8535
dc.descriptionFilocamo, M., Bonucelli, G., Corsolini, F., Mazzotti, R., Cusano, R., Gatti, R., Molecular analysis of 40 Italian patients with mucopolysaccharidosis type II: new mutations in the iduronate-2-sulfatase (IDS) gene (2001) Hum. Mutat., pp. 164-165
dc.descriptionFroissart, R., Moreira da Silva, I., Guffon, N., Bozon, D., Maire, I., Mucopolysaccharidosis type II genotype/phenotype aspects (2002) Acta Paediatr. Suppl., 439, pp. 82-87
dc.descriptionHGMD - The Human Gene Mutation Database, , http://www.uwcm.ac.uk/uwcm/mg/search
dc.descriptionSchwartz, I.V., Ribeiro, M.G., Mota, J.G., Toralles, M.B., Correia, P., Horovitz, D., Santos, E.S., Giugliani, R., A clinical study of 77 patients with mucopolysaccharidosis type II (2007) Acta Paediatr. Suppl., 96, pp. 63-70
dc.descriptionYoung, I.D.S., Harper, P.S., Newcombe, R.G., Archer, I.M., A clinical and genetic study of Hunter syndrome 2 Differences between the mild and severe forms (1982) J. Med. Genet., 19, pp. 408-411
dc.descriptionDipple, K.M., McCabe, E.R.B., Phenotypes of patients with "simple" Mendelian disorders are complex traits: thresholds, modifiers, and systems dynamics (2000) Am. J. Hum. Genet., 66, pp. 1729-1735
dc.descriptionMiller, A.S., Dykes, D.D., Polesky, H.F., A simple salting-out procedure for extracting DNA from human nucleated cells (1988) Nucleic Acid Res., 16, p. 1215
dc.descriptionLualdi, S., Regis, S., Di Rocco, M., Corsolini, F., Stroppiano, M., Antuzzi, D., Filocamo, M., Characterization of Idorunate-2-sulfatase gene-pseudogene recombinants in eight patients with mucopolysaccharidosis type II revealed by rapid PCR-based method (2005) Hum. Mutat., 25, pp. 491-497
dc.descriptionBunge, S., Steglich, C., Zuther, C., Beck, M., Phillip-Morris, C., Schwinger, E., Schinzel, A., Gal, A., Iduronate-2-sulfatase gene mutations in 16 patients with mucopolysaccharidosis type II (Hunter syndrome) (1993) Hum. Mol. Genet., 2, pp. 1871-1875
dc.descriptionGoldenfum, S.L., Young, E., Michelakakis, H., Tsagarakis, S., Winchester, B., Mutation analysis in 20 patients with Hunter disease (1996) Hum. Mutat., 7, pp. 76-78
dc.descriptionLagerstedt, K., Karsten, S., Carlsberg, B.M., Kleijer, W.J., Tönnesen, T., Petterson, U., Bondenson, M.L., Double-strand breaks may initiate the inversion mutation causing the Hunter syndrome (1997) Hum. Mol. Genet., 6 (4), pp. 627-633
dc.descriptionBrusius-Facchin, A.C., De Souza, C.F., Schwartz, I.V., Riegel, M., Melaragno, M.I., Correia, P., Moraes, L.M., Leistner-Segal, S., Severe phenotype in MPS II patients associated with a large deletion including contiguous genes (2012) Am. J. Med. Genet. A, 158 A, pp. 1055-1059
dc.descriptionDaniele, A., Faust, C.J., Herman, G.E., Di Natale, P., Ballabio, A., Cloning and characterization of the cDNA for the murine iduronate sulfatase gene (1993) Genomics, 16, pp. 755-757
dc.descriptionFroissart, R., Maire, I., Millat, G., Cudry, S., Birot, A.M., Bonnet, V., Bouton, O., Bozon, D., Identification of iduronate sulfatase gene alterations in 70 unrelated Hunter patients (1998) Clin. Genet., 53, pp. 362-368
dc.descriptionRamensky, V., Bork, P., Sunyaev, S., Human non-synonymous SNPs: server and survey (2002) Nucleic Acids Res., 17, pp. 3894-3900
dc.descriptionVafiadaki, E., Cooper, A., Heptinstall, L.E., Hatton, C.E., Thornley, M., Wraith, J.E., Mutation analysis in 57 unrelated patients with MPS II (Hunter disease) (1998) Arch. Dis. Child., 79, pp. 237-241
dc.descriptionCarrozo, R., Tonlorenzi, R., Corsolini, F., Gatti, R., Two new nonsense mutations (Q80X and Q389X) in patients with severe Hunter syndrome (1996) Hum. Mutat., 7, pp. 184-185
dc.descriptionEmre, S., Terzioǧlu, M., Coşkun, T., Tokath, A., Ozalp, I., Müller, V., Hopwood, J., Biochemical and molecular analysis of mucopolysaccharidoses in Turkey (2002) Turk. J. Pediatr., 44, pp. 13-17
dc.descriptionda Silva, I.M., Froissart, R., dos Santos, H.M., Caseiro, C., Maire, I., Bonzon, D., Molecular basis of mucopolysaccharidosis type II in Portugal: identification of four novel mutations (2001) Clin. Genet., 60, pp. 316-318
dc.descriptionFlomen, R.H., Green, P.M., Bentley, D.R., Giannelli, F., Green, E., Detection of point mutations and a gross deletion in six Hunter syndrome patients (1992) Genomics, 13, pp. 543-550
dc.descriptionLissens, W., Seneca, S., Liebaers, I., Molecular analysis in 23 Hunter disease families (1997) J. Inherit. Metab. Dis., 20, pp. 453-456
dc.descriptionIsogai, K., Sukegawa, K., Tomatsu, S., Fukao, T., Song, X.Q., Yamada, Y., Fukuda, S., Kondo, T., Mutation analysis in the iduronate-2-sulphatase gene in 43 Japanese patients with mucopolysaccharidosis type II (Hunter disease) (1998) J. Inherit. Metab. Dis., 21, pp. 60-70
dc.descriptionGort, L., Chabás, A., Coll, M.J., Hunter disease in the Spanish population: molecular analysis in 31 families (1998) J. Inherit. Metab. Dis., 21, pp. 655-661
dc.descriptionLi, P., Bellows, A.B., Thompson, J.N., Molecular basis of iduronate-2-sulphatase gene mutations in patients with mucopolysaccharidosis type II (Hunter syndrome) (1999) J. Med. Genet., 36, pp. 21-27
dc.descriptionVallance, H.D.H.D., Bernard, L.L., Rashed, M.M., Chiu, D.D., Le, G.G., Toone, J.J., Applegarth, D.A.D.A., Coulter-Mackie, M.M., Identification of 6 new mutations in the iduronate sulfatase gene (1999) Hum. Mutat., 13, p. 338
dc.descriptionTimms, K., Edwards, F., Belmont, J.W., Yates, J.R.W., Gibbs, R.A., Reassessment of biochemically determined Hunter syndrome carrier status by DNA testing (1998) J. Med. Genet., 35 (8), pp. 646-649
dc.descriptionden Dunnen, J.T., Antonorakis, S.E., Nomenclature for the description of sequence variations (2001) Hum. Genet., 109, pp. 121-124
dc.descriptionFroissart, R., Da Silva, I.M., Maire, I., Mucopolysaccharidosis type II: an update on mutation spectrum (2007) Acta Paediatr. Suppl., 96, pp. 71-77
dc.descriptionSohn, Y.B., Ki, C.S., Kim, C.H., Ko, A.R., Yook, Y.J., Lee, S.J., Kim, S.J., Jin, D.K., Identification of 11 novel mutations in 49 Korean patients with mucopolysaccharidosis type II (2012) Clin. Genet., 2, pp. 185-190
dc.descriptionRathmann, M., Bunge, S., Beck, M., Kresse, H., Tylki-Szymanksa, A., Gal, A., Mucopolysaccharidosis type II (Hunter syndrome): mutation "hot spots" in the iduronate-2-sulfatase gene (1996) Am. J. Hum. Genet., 59, pp. 1202-1209
dc.descriptionZhang, H., Li, J., Zhang, X., Wang, Y., Qiu, W., Ye, J., Han, L., Gu, X., Analysis of the IDS gene in 38 patients with Hunter syndrome: the c.879G>A (p.Gln293Gln) synonymous variation in a female create exonic splicing (2011) PLoS One, 8, p. 22951
dc.descriptionQuaio, C.R., Grinberg, H., Vieira, M.L., Paula, A.C., Leal, G.N., Gomy, I.I., Leistner-Segal, S., Kim, C.A., Report of a Large Brazilian Family With a Very Attenuated Form of Hunter Syndrome (MPS II) (2012) JIMD Rep., 4, pp. 125-128
dc.descriptionTomatsu, S., Sukegawa, K., Trandafirescu, G.G., Gutierrez, M.A., Nishioka, T., Yamaguchi, S., Orii, T., Sly, W.S., Differences in methylation patterns in the methylation boundary region of IDS gene in Hunter syndrome patients: implications for CpG hot spot mutations (2006) Eur. J. Hum. Genet., 14, pp. 838-845
dc.descriptionKeeratichamroen, S., Cairns, J.R., Wattanasirichaigoon, D., Wasant, P., Ngiwsara, L., Suwannarat, P., Pangkanon, S., Svasti, J., Molecular analysis of the iduronate-2-sulfatase gene in Thai patients with Hunter syndrome (2008) J. Inherit. Metab. Dis., 2, pp. 303-311
dc.descriptionPopowska, E., Rathmann, M., Tylki-Szymanska, A., Bunge, S., Steglich, C., Schwinger, E., Gal, A., Mutations of the iduronate-2-sulfatase gene in 12 Polish patients with mucopolysaccharidosis type II (1995) Hum. Mutat., 5, pp. 97-100
dc.descriptionKarsten, S., Voskoboeva, W., Carlberg, B.M., Kleijer, W.J., Tönnesen, T., Pettersson, U., Bondenson, M.L., Identification of 9 novel IDS gene mutations in 19 unrelated Hunter syndrome (mucopolysaccharidosis type II) patients (1998) Hum. Mutat., 12, p. 433
dc.descriptionChang, J.H., Lee-Chen, G.J., Lin, S.P., Chuang, C.K., Characterization of a novel p.S305P and a known c.1006+5G>C splice site mutation in human iduronate-2-sulfatase associated with mucopolysaccharidosis type II (2007) Clin. Chim. Acta, 384, pp. 167-170
dc.descriptionSukegawa, K., Tomatsu, S., Fukao, T., Iwata, H., Song, X.Q., Yamada, Y., Fukuda, S., Orii, T., Mucopolysaccharidosis type II (Hunter disease): identification and characterization of eight point mutations in the iduronate-2-sulfatase gene in Japanese patients (1995) Hum. Mutat., 5, pp. 136-143
dc.descriptionKarsten, S., Voskoboeva, E., Tishkanina, S., Petterson, U., Krasnopolskaja, X., Bondenson, M.L., Mutational spectrum of the iduronate-2-sulfatase (IDS) gene in 36 unrelated Russian MPS II patients (1998) Hum. Genet., 103 (6), pp. 732-735
dc.descriptionKato, T., Kato, Z., Kuratsubo, I., Tanaka, N., Ishigami, T., Kajihara, J., Sukegawa-Hayasaka, K., Suzuki, Y., Mutational and structural analysis of Japanese patients with mucopolysaccharidosis type II (2005) J. Hum. Genet., 50, pp. 395-402
dc.descriptionSimon-Schiff, E.B., Bach, G., Hopwood, J.J., Abeliovich, D., Mutation analysis of Jewish Hunter patients in Israel (1994) Hum. Mutat., 4, pp. 263-270
dc.descriptionHartog, C.C., Fryer, A.A., Upadhyaya, M.M., Mutation analysis of iduronate-2-sulphatase gene in 24 patients with Hunter syndrome: characterization of 6 novel mutations (1999) Hum. Mutat., 14, p. 87
dc.descriptionSchröder, W., Wulff, K., Wehnert, M., Seidlitz, G., Herrmann, F.H., Mutations of the Iduronate-2-sulfatase (IDS) gene in patients with Hunter syndrome (mucopolysaccharidosis II) (1994) Hum. Mutat., 4, pp. 128-131
dc.descriptionJonsson, J., Aronovich, E.L., Braun, S.E., Whitley, C.B., Molecular diagnosis of mucopolysaccharidosis type II (Hunter syndrome) by automated sequencing and computer-assisted interpretation: toward mutation mapping of the iduronate-2-sulfatase gene (1995) Am. J. Hum. Genet., 56, pp. 597-607
dc.descriptionCrotty, P.L., Braun, S.E., Anderson, R.A., Whitley, C.B., Mutational R468W of the iduronate-2-sulphatase gene in mild Hunter syndrome (mucopolysaccharidosis type II) confirmed by in vitro mutagenesis and expression (1992) Hum. Mol. Genet., 1, pp. 755-758
dc.descriptionWhitley, C.B., Anderson, R.A., Aronovich, E., Crotty, P.L., Anyane-Yeboa, K., Russo, D., Warburton, D., Caveat to genotype-phenotype correlation in mucopolysaccharidosis type II: discordant clinical severity of R468W and R468Q mutations of the iduronate-2-sulfatase gene (1993) Hum. Mutat., 2, pp. 235-237
dc.descriptionVillani, G.R.D., Balzano, N., Grosso, M., Salvatore, F., Izzo, P., Di Natale, P., Mucopolysaccharidosis type II: identification of six novel mutations in Italian patients (1997) Hum. Mutat., 10, pp. 71-75
dc.descriptionHaldane, J.B.S., The rate of spontaneous mutation of a human gene (1935) J. Genet., 31, pp. 317-326
dc.descriptionChase, D.S., Morris, A.H., Ballabio, A., Pepper, S., Giannelli, F., Adinolfi, M., Genetics of Hunter syndrome: carrier detection, new mutations, segregation and linkage analysis (1986) Ann. Hum. Genet., 50 (PART 4), pp. 349-360
dc.descriptionMachill, G., Barbujani, G., Danieli, G.A., Herrmann, F.H., Segregation and sporadic cases in families with Hunter's syndrome (1991) J. Med. Genet., 28 (6), pp. 398-401. , (PubMed PMID: 1908009)
dc.descriptionBellows, A.B., Thompson, J.N., Mutational analysis, heterozygote detection, and haplotype analysis in 48 families affected with Hunter syndrome (2000) 6th International Symposium on Mucopolysaccharidosis and Related Diseases and International Symposium on Innovative Therapies, May 19-21, p. 4. , University of Minnesota, Minneapolis, USA
dc.languageen
dc.publisher
dc.relationMolecular Genetics and Metabolism
dc.rightsfechado
dc.sourceScopus
dc.titleMucopolysaccharidosis Type Ii: Identification Of 30 Novel Mutations Among Latin American Patients
dc.typeArtículos de revistas


Este ítem pertenece a la siguiente institución