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Are MPS II heterozygotes actually asymptomatic? A study based on clinical and biochemical data, X-inactivation analysis and imaging evaluations.
MedLine Citation:
PMID:  21204210     Owner:  NLM     Status:  In-Data-Review    
Abstract/OtherAbstract:
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 following: 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. © 2010 Wiley-Liss, Inc.
Authors:
Louise Lapagesse de Camargo Pinto; Sharbel Weidner Maluf; Sandra Leistner-Segal; Camila Zimmer da Silva; Ana Brusius-Facchin; Maira Graef Burin; Silvia Brustolin; Juan Llerena; Lucia Moraes; Leonardo Vedolin; Alice Schuch; Roberto Giugliani; Ida Vanessa Doederlein Schwartz
Publication Detail:
Type:  Journal Article    
Journal Detail:
Title:  American journal of medical genetics. Part A     Volume:  155     ISSN:  1552-4833     ISO Abbreviation:  Am. J. Med. Genet. A     Publication Date:  2011 Jan 
Date Detail:
Created Date:  2011-01-04     Completed Date:  -     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  101235741     Medline TA:  Am J Med Genet A     Country:  United States    
Other Details:
Languages:  eng     Pagination:  50-7     Citation Subset:  IM    
Copyright Information:
Copyright © 2010 Wiley-Liss, Inc.
Affiliation:
Postgraduate Program in Child and Adolescent Health, UFRGS, Porto Alegre, Brazil; Medical Genetics Service, Hospital de Clínicas de Porto Alegre, Porto Alegre, Brazil. loulapagesse@ibest.com.br.
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