Use este identificador para citar ou linkar para este item: http://higia.imip.org.br/handle/123456789/752
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dc.contributor.authorJosahkian, Juliana Alves-
dc.contributor.authorBrusius-Facchin, Ana Carolina-
dc.contributor.authorNetto, Alice Brinckmann Oliveira-
dc.contributor.authorLeistner-Segal, Sandra-
dc.contributor.authorMálaga, Diana Rojas-
dc.contributor.authorBurin, Maira Graeff-
dc.contributor.authorMichelin-Tirelli, Kristiane-
dc.contributor.authorTrapp, Franciele Barbosa-
dc.contributor.authorCardoso-dos-Santos, Augusto César-
dc.contributor.authorRibeiro, Erlane Marques-
dc.contributor.authorKim, Chong Ae-
dc.contributor.authorSiqueira, Ana Cecília Menezes de-
dc.contributor.authorSantos, Mara Lucia-
dc.contributor.authorValle, Daniel Almeida do-
dc.contributor.authorSilva, Raquel Tavares Boy da-
dc.contributor.authorHorovitz, Dafne Dain Gandelman-
dc.contributor.authorMedeiros, Paula Frassinetti Vasconcelos de-
dc.contributor.authorSouza, Carolina Fischinger Moura de-
dc.contributor.authorGiuliani, Liane de Rosso-
dc.contributor.authorMiguel, Diego Santana Chaves Geraldo-
dc.contributor.authorSantana-da-Silva, Luiz Carlos-
dc.contributor.authorGalera, Marcial Francis-
dc.contributor.authorGiugliani, Roberto-
dc.date.accessioned2022-06-17T14:13:56Z-
dc.date.available2022-06-17T14:13:56Z-
dc.date.issued2021-
dc.identifier.urihttp://higia.imip.org.br/handle/123456789/752-
dc.description.abstractMucopolysaccharidosis type II (MPS II) is an X-linked inherited disease caused by pathogenic variants in the IDS gene, leading to deficiency of the lysosomal enzyme iduronate-2-sulfatase and consequent widespread storage of glycosaminoglycans, leading to several clinical consequences, with progressive manifestations which most times includes cognitive decline. MPS II has wide allelic and clinical heterogeneity and a complex genotype–phenotype correlation. We evaluated data from 501 Brazilian patients diagnosed with MPS II from 1982 to 2020. We genotyped 280 of these patients (55.9%), which were assigned to 206 different families. Point mutations were present in 70% of our patients, being missense variants the most frequent. We correlated the IDS pathogenic variants identified with the phenotype (neuronophatic or non-neuronopathic). Except for two half-brothers, there was no discordance in the genotype–phenotype correlation among family members, nor among MPS II patients from different families with the same single base-pair substitution variant. Mothers were carriers in 82.0% of the cases. This comprehensive study of the molecular profile of the MPS II cases in Brazil sheds light on the genotype–phenotype correlation and helps the better understanding of the disease and the prediction of its clinical course, enabling the provision of a more refined genetic counseling to the affected families.pt_BR
dc.language.isoenpt_BR
dc.subjectMucopolissacaridose IIpt_BR
dc.subjectIduronato Sulfatasept_BR
dc.subjectDoenças por armazenamento dos lisossomospt_BR
dc.titleGenotype-phenotype studies in a large cohort of Brazilian patients with Hunter syndromept_BR
dc.higia.programArtigos científicos colaboradores IMIPpt_BR
dc.higia.tipoArtigo Científicopt_BR
dc.higia.pages8 p.pt_BR
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