Skip Navigation



Journal of Tropical Pediatrics Advance Access published online on July 5, 2007
Journal of Tropical Pediatrics, doi:10.1093/tropej/fmm056
This Article
Right arrow Full Text
Right arrow Full Text (PDF)
Right arrow All Versions of this Article:
53/6/434    most recent
fmm056v1
Right arrow E-letters: Submit a response
Right arrow Alert me when this article is cited
Right arrow Alert me when E-letters are posted
Right arrow Alert me if a correction is posted
Services
Right arrow Email this article to a friend
Right arrow Similar articles in this journal
Right arrow Similar articles in PubMed
Right arrow Alert me to new issues of the journal
Right arrow Add to My Personal Archive
Right arrow Download to citation manager
Right arrowRequest Permissions
Google Scholar
Right arrow Articles by Mutesa, L.
Right arrow Articles by Bours, V.
Right arrow Search for Related Content
PubMed
Right arrow PubMed Citation
Right arrow Articles by Mutesa, L.
Right arrow Articles by Bours, V.
Social Bookmarking
Add to CiteULike   Add to Connotea   Add to Del.icio.us  
What's this?

© The Author [2007]. Published by Oxford University Press. All rights reserved. For Permissions, please email: journals.permissions@oxfordjournals.org

Molecular Analysis in Two Siblings African Patients with Severe Form of Hunter Syndrome: Identification of a Novel (p.Y54X) Nonsense Mutation

Léon Mutesaa, Narcisse Mugangab, Willy Lissensc, François Boemera, Roland Schoosa, Geneviève Pierquina and Vincent Boursa

aCenter for Human Genetics, CHU Sart-Tilman, University of Liège, Belgium
bDepartment of Paediatrics, National University of Rwanda, Kigali, Rwanda
cCenter for Medical Genetics, Dutch-speaking Free University of Brussels, Belgium

Correspondence: Prof. Vincent Bours, Center for Human Genetics, CHU Sart-Tilman, University of Liège, 4000 Liège, Belgium. E-mail < vbours{at}ulg.ac.be>.


  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.

Key Words: African patients • Hunter syndrome • iduronate-2-sulfatase • nonsense mutation.


Add to CiteULike CiteULike   Add to Connotea Connotea   Add to Del.icio.us Del.icio.us    What's this?




Disclaimer:
Please note that abstracts for content published before 1996 were created through digital scanning and may therefore not exactly replicate the text of the original print issues. All efforts have been made to ensure accuracy, but the Publisher will not be held responsible for any remaining inaccuracies. If you require any further clarification, please contact our Customer Services Department.