| Author | Pinto, Louise Lapagesse de Camargo | |
| Author | Maluf, Sharbel Weidner | |
| Author | Leistner-Segal, Sandra | |
| Author | Silva, Camila Zimmer da | |
| Author | Brusius-Facchin, Ana | |
| Author | Burin, Maira Graef | |
| Author | Brustolin, Silvia | |
| Author | Llerena Junior, Juan Clinton | |
| Author | Moraes, Lucia | |
| Author | Vedolin, Leonardo | |
| Author | Schuch, Alice | |
| Author | Giugliani, Roberto | |
| Author | Schwartz, Ida Vanessa Doederlein | |
| Access date | 2015-02-25T14:29:21Z | |
| Available date | 2015-02-25T14:29:21Z | |
| Document date | 2010 | |
| Citation | PINTO, Louise Lapagesse de Camargo. et al. Are MPS II heterozygotes actually asymptomatic? A study based on clinical and biochemical data, x-inactivation analysis and imaging evaluations. Am. j. med. genet., Hoboken, v. 155, p. 50–57, 2010. | pt_BR |
| ISSN | 10.1002/ajmg.a.33770 | |
| URI | https://www.arca.fiocruz.br/handle/icict/9541 | |
| Language | eng | pt_BR |
| Publisher | Wiley | pt_BR |
| Rights | restricted access | pt_BR |
| Title | Are MPS II heterozygotes actually asymptomatic? A study based on clinical and biochemical data, x-inactivation analysis and imaging evaluations | pt_BR |
| Type | Article | pt_BR |
| Abstract | For some X-linked disorders the expressivity and penetrance
in females are almost similar to those ones found in males.
For mucopolysaccharidosis type II (MPS II), there are no
studies in the literature trying to identify subtle signs and
symptoms of this disease in heterozygotes. The objective of
this study was to compare heterozygotes and non-heterozygotes
for MPS II, in order to test the hypothesis that heterozygotes
may present subtle manifestations of the disease. In this
observational and transversal study we collected data on 40
Brazilian women with a positive familial history for MPS II that
included clinical and physical exam, karyotype, pattern of X-inactivation, iduronate-2-sulfatase (IDS) activity in leukocytes
and plasma, urinary glycosaminoglycans levels, computerized
tomography scans (CT) of abdomen and spine, and brain
magnetic resonance imaging. The Results showed the follow-ing: According to DNA analysis, 22 women were classified
as heterozygote and 18 as non-heterozygotes. We did not find
any abnormality on physical examination, karyotype, or
spine CT. Also the pattern of X-inactivation was not different
between the groups. Applying the Bonferroni’s correction,
both groups were found to differ only in relation to IDS
activity in plasma and in leukocyte, which were lower in
heterozygotes. In our investigation we did not find any evidence
of subtle clinical manifestations of MPS II in heterozygotes.
Our findings suggest there is no relation between the absence
of clinical signs in these women and the occurrence of a
favorable skewing pattern of X-inactivation. | pt_BR |
| Affilliation | Universidade Federal do Rio Grande do Sul. Programa de Pós-Graduação em Saúde da Criança e do Adolescente. Porto Alegre RS, Brasil. / Hospital de Clínicas de Porto Alegre. Serviço de Genética Médica. Porto Alegre RS, Brasil. | pt_BR |
| Affilliation | Hospital de Clínicas de Porto Alegre. Serviço de Genética Médica. Porto Alegre RS, Brasil. | pt_BR |
| Affilliation | Hospital de Clínicas de Porto Alegre. Serviço de Genética Médica. Porto Alegre RS, Brasil. | pt_BR |
| Affilliation | Hospital de Clínicas de Porto Alegre. Serviço de Genética Médica. Porto Alegre RS, Brasil. | pt_BR |
| Affilliation | Hospital de Clínicas de Porto Alegre. Serviço de Genética Médica. Porto Alegre RS, Brasil. | pt_BR |
| Affilliation | Hospital de Clínicas de Porto Alegre. Serviço de Genética Médica. Porto Alegre RS, Brasil. | pt_BR |
| Affilliation | Hospital de Clínicas de Porto Alegre. Serviço de Genética Médica. Porto Alegre RS, Brasil. | pt_BR |
| Affilliation | Fundação Oswaldo Cruz. Instituto Fernandes Figueira. Rio de Janeiro, RJ, Brasil. | pt_BR |
| Affilliation | Instituto Nacional do Câncer. Departamento de Genética. Rio de Janeiro, RJ, Brasil. | pt_BR |
| Affilliation | Hospital Moinhos de Vento. Departamento de Radiologia. Porto Alegre, RS, Brasil. | pt_BR |
| Affilliation | Hospital Moinhos de Vento. Departamento de Radiologia. Porto Alegre, RS, Brasil. | pt_BR |
| Affilliation | Universidade Federal do Rio Grande do Sul. Programa de Pós-Graduação em Saúde da Criança e do Adolescente. Porto Alegre RS, Brasil. / Hospital de Clínicas de Porto Alegre. Serviço de Genética Médica. Porto Alegre RS, Brasil. / Universidade Federal do Rio Grande do Sul. Hospital de Clínicas de Porto Alegre. Porto Alegre, RS, Brasil. | pt_BR |
| Affilliation | Hospital de Clínicas de Porto Alegre. Serviço de Genética Médica. Porto Alegre RS, Brasil. / Universidade Federal do Rio Grande do Sul. Hospital de Clínicas de Porto Alegre. Porto Alegre, RS, Brasil. | pt_BR |
| Subject | X-Inactivation | pt_BR |
| Subject | Heterozygotes | pt_BR |
| Subject | Iduronate Sulfatase | pt_BR |
| Subject | Lycosaminoglycans | pt_BR |
| Subject | Mucopolysaccharidosis Type II | pt_BR |
| DeCS | Iduronato Sulfatase | pt_BR |
| DeCS | Mucopolissacaridose II | pt_BR |
