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: Léon Mutesa, Narcisse Muganga, Willy Lissens, François Boemer, Roland Schoos, Geneviève Pierquin, Vincent Bours
• Journal: Journal of tropical pediatrics (J Trop Pediatr) Vol. 53 Issue 6 Pg. 434-7 (Dec 2007) ISSN: 0142-6338 [Print] England
• PMID: 17616540 (Publication Type: Case Reports, Journal Article)

Chemical References

• Codon, Nonsense
• Glycoproteins
• IDS protein, human

Topics

• Black People (genetics)
• Child
• Codon, Nonsense
• Glycoproteins (genetics)
• Humans
• Male
• Mucopolysaccharidosis II (diagnostic imaging, genetics)
• Radiography
• Siblings