Article
DNA deletion confined to the iduronate-2-sulfatase promoter abolishes IDS gene expression.
Human mutation - 1 Jan 1998
Timms K M, Huckett L E, Belmont J W, Shapira S K, Gibbs R A
Abstract excerpt
Deficiency of the enzyme iduronate-2-sulfatase (IDS) results in Hunter syndrome, an X-linked recessive lysosomal storage disorder. In this study, analysis of a patient with features of moderate to severe Hunter syndrome identified a 178-bp deletion upstream of IDS exon 1 spanning a predicted prom...
Topics
- Base Sequence
- Child, Preschool
- DNA Mutational Analysis
- Gene Expression Regulation
- Humans
- Iduronate Sulfatase
- Male
- Molecular Sequence Data
- Mucopolysaccharidosis II
- Pedigree
- Phenotype
- Promoter Regions, Genetic