Article
Extension of the molecular analysis to the promoter region of the iduronate 2-sulfatase gene reveals genomic alterations in mucopolysaccharidosis type II patients with normal coding sequence.
Gene - 10 Sept 2013
Brusius-Facchin Ana Carolina, Abrahão Luiza, Schwartz Ida Vanessa Doederlein, Lourenço Charles Marques, Santos Emerson Santana, Zanetti Alessandra, Tomanin Rosella, Scarpa Maurizio, Giugliani Roberto, Leistner-Segal Sandra
Abstract excerpt
Hunter disease or mucopolysaccharidosis type II (MPS II) is an X-linked recessive lysosomal disorder caused by the deficit of the enzyme iduronate-2-sulfatase (IDS), involved in the catabolism of the glycosaminoglycans heparan and dermatan sulfate. Our aim was to search for molecular defects in the promoter region of the IDS gene in patients with previous biochemical diagnosis of MPS II and after we sequenced the...
Topics
- 5' Untranslated Regions
- Adult
- Base Sequence
- Female
- Gene Deletion
- Genetic Association Studies
- Genetic Variation
- Humans
- Iduronate Sulfatase
- Male
- Molecular Sequence Data
- Mucopolysaccharidosis II