FIG. 2.

SSO treatment in fibroblasts from an Niemann-Pick type C (NPC) patient with a heterozygous intronic mutation in the NPC1 gene that generates pseudoexon inclusion. Reverse transcription–polymerase chain reaction of part of the gene shows two bands: the upper one corresponds to the allele bearing the pseudoexon, and the lower one to the normally spliced allele. Treatment with a specific SSO targeting the pseudoexon splice site abolishes its inclusion (upper band), while the use of a scrambled oligonucleotide (scr) had no effect. The normal-size band after the treatment was shown to correspond to both alleles through the sequencing of a polymorphism for which the patient was heterozygous. Exons included in the mRNA are indicated in grey. The nucleotide corresponding to the G>A mutation is boxed.