Molecular analysis in two siblings African patients with severe form of Hunter Syndrome: identification of a novel (p.Y54X) nonsense mutation.
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.
Mutesa
Léon
L
Center for Human Genetics, CHU Sart-Tilman, University of Liège, Belgium.
Muganga
Narcisse
N
Lissens
Willy
W
Boemer
François
F
Schoos
Roland
R
Pierquin
Geneviève
G
Bours
Vincent
V
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
D018389:Codon, Nonsense; D006023:Glycoproteins; C018322:IDS protein, human