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.

journal_name

J Trop Pediatr

authors

Mutesa L,Muganga N,Lissens W,Boemer F,Schoos R,Pierquin G,Bours V

doi

10.1093/tropej/fmm056

subject

Has Abstract

pub_date

2007-12-01 00:00:00

pages

434-7

issue

6

eissn

0142-6338

issn

1465-3664

pii

fmm056

journal_volume

53

pub_type

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