Article
Enigmatic in vivo iduronate-2-sulfatase (IDS) mutant transcript correction to wild-type in Hunter syndrome.
Human mutation - 1 Apr 2010
Lualdi Susanna, Tappino Barbara, Di Duca Marco, Dardis Andrea, Anderson Christopher J, Biassoni Roberto, Thompson Peter W, Corsolini Fabio, Di Rocco Maja, Bembi Bruno, Regis Stefano, Cooper David N, Filocamo Mirella
Abstract excerpt
Sequence analysis of the X-linked iduronate-2-sulfatase (IDS) gene in two Hunter syndrome patients revealed a lack of concordance between IDS genomic DNA and cDNA. These individuals were found to be hemizygous respectively for a nonsense mutation [c.22C>T;p.R8X] and a frameshift micro-insertion [c.10insT;p.P4Sfs] in their genomic DNA. However, both wild-type and mutant IDS sequences were evident upon cDNA...
Topics
- Adolescent
- Adult
- Base Sequence
- Blotting, Western
- Child
- Child, Preschool
- DNA Mutational Analysis
- DNA, Complementary
- Female
- Gene Expression Regulation, Enzymologic
- Glycoproteins
- Humans
- Male