Multiple cryptic splice sites can be activated by IDS point mutations generating misspliced transcripts.

Abstract excerpt

Mutations in the gene encoding the enzyme iduronate-2-sulfatase (IDS) were reported as the cause of the X-linked recessive lysosomal disease, mucopolysaccharidosis II (MPS II). Amongst the different mutations, it emerges that nearly 10% are nucleotide substitutions causing splicing mutations. We now report the molecular characterisation of three MPS II patients with multiple aberrant transcripts due to three...

Topics

• Adolescent
• Alternative Splicing
• Child
• Child, Preschool
• Genotype
• Glycoproteins
• Humans
• Mucopolysaccharidosis II
• Phenotype
• Point Mutation
• RNA Splice Sites
• RNA, Messenger
• Reverse Transcriptase Polymerase Chain Reaction