title: Molecular analysis in two siblings African patients with severe form of Hunter Syndrome: identification of a novel (p.Y54X) nonsense mutation.
abstract: 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.
authors.affiliation: Center for Human Genetics, CHU Sart-Tilman, University of Liège, Belgium.
authors.forename: Léon
authors.initials: L
authors.lastname: Mutesa
authors.forename: Narcisse
authors.initials: N
authors.lastname: Muganga
authors.forename: Willy
authors.initials: W
authors.lastname: Lissens
authors.forename: François
authors.initials: F
authors.lastname: Boemer
authors.forename: Roland
authors.initials: R
authors.lastname: Schoos
authors.forename: Geneviève
authors.initials: G
authors.lastname: Pierquin
authors.forename: Vincent
authors.initials: V
authors.lastname: Bours
mesh_terms: D044383:Black People / Q000235:genetics*; D002648:Child; D018389:Codon, Nonsense; D006023:Glycoproteins / Q000235:genetics*; D006801:Humans; D008297:Male; D016532:Mucopolysaccharidosis II / Q000000981:diagnostic imaging / Q000235:genetics*; D011859:Radiography; D035781:Siblings
chemical_list: D018389:Codon, Nonsense; D006023:Glycoproteins; C018322:IDS protein, human