Antisense oligonucleotide treatment for a pseudoexon-generating mutation in theNPC1gene causing Niemann-Pick type C disease

Abstract excerpt

Niemann-Pick type C disease is an autosomal recessive disorder caused by mutations in either the NPC1 or NPC2 gene. While most of the mutations are missense, a few splicing mutations have also been described. We identified and characterized a novel point mutation c.1554-1009G>A located in intron 9 of the NPC1 gene in a Spanish patient. Sequencing of the cDNA from the patient showed that this intronic mutation...

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