Are MPS II heterozygotes actually asymptomatic? A study based on clinical and biochemical data, x-inactivation analysis and imaging evaluations

dc.creatorPinto, Louise Lapagesse de Camargo
dc.creatorMaluf, Sharbel Weidner
dc.creatorLeistner-Segal, Sandra
dc.creatorSilva, Camila Zimmer da
dc.creatorBrusius-Facchin, Ana
dc.creatorBurin, Maira Graef
dc.creatorBrustolin, Silvia
dc.creatorLlerena Junior, Juan Clinton
dc.creatorMoraes, Lucia
dc.creatorVedolin, Leonardo
dc.creatorSchuch, Alice
dc.creatorGiugliani, Roberto
dc.creatorSchwartz, Ida Vanessa Doederlein
dc.date2015-02-25T14:29:21Z
dc.date2015-02-25T14:29:21Z
dc.date2010
dc.date.accessioned2023-09-26T20:53:51Z
dc.date.available2023-09-26T20:53:51Z
dc.identifierPINTO, 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.
dc.identifier10.1002/ajmg.a.33770
dc.identifierhttps://www.arca.fiocruz.br/handle/icict/9541
dc.identifier.urihttps://repositorioslatinoamericanos.uchile.cl/handle/2250/8865794
dc.descriptionFor 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.
dc.formatapplication/pdf
dc.languageeng
dc.publisherWiley
dc.rightsrestricted access
dc.subjectX-Inactivation
dc.subjectHeterozygotes
dc.subjectIduronate Sulfatase
dc.subjectLycosaminoglycans
dc.subjectMucopolysaccharidosis Type II
dc.subjectIduronato Sulfatase
dc.subjectMucopolissacaridose II
dc.titleAre MPS II heterozygotes actually asymptomatic? A study based on clinical and biochemical data, x-inactivation analysis and imaging evaluations
dc.typeArticle


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