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Publication Details
AFRICAN RESEARCH NEXUS
SHINING A SPOTLIGHT ON AFRICAN RESEARCH
medicine
Molecular analysis in two siblings African patients with severe form of hunter syndrome: Identification of a novel (p.Y54X) nonsense mutation
Journal of Tropical Pediatrics, Volume 53, No. 6, Year 2007
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Description
Hunter syndrome (or Mucopolysaccharidosis type II, MPS II) is an X-linked recessive disorder due to the deficiency of the iduronate-2-sulfatase (IDS) enzyme, resulting in the accumulation of heparan and dermatan sulfates in the lysosomes. The heterogeneity of clinical phenotypes, ranging from mild-to-severe forms, is a result of different mutations in the IDS gene. We report here, a novel nonsense mutation (p.Y54X) in two siblings MPS II African patients affected with a severe form of the disease. We postulated that the p.Y54X mutation which causes a loss of the IDS region highly conserved among sulfatase enzymes, could be predicted as a severe disease-causing mutation for Hunter syndrome. © The Author [2007]. Published by Oxford University Press. All rights reserved.
Authors & Co-Authors
Mutesa, Léon
Belgium, Liege
Université de Liège
Muganga, Narcisse
Rwanda, Butare
University of Rwanda
Lissens, W.
Belgium, Jette
Universitair Ziekenhuis Brussel
Boemer, François
Belgium, Liege
Université de Liège
Schoos, Roland
Belgium, Liege
Université de Liège
Pierquin, Geneviève
Belgium, Liege
Université de Liège
Bours, Vincent
Belgium, Liege
Université de Liège
Statistics
Citations: 7
Authors: 7
Affiliations: 3
Identifiers
Doi:
10.1093/tropej/fmm056
ISSN:
01426338
e-ISSN:
14653664
Research Areas
Cancer
Genetics And Genomics