期刊
MOLECULAR THERAPY-NUCLEIC ACIDS
卷 1, 期 -, 页码 -出版社
CELL PRESS
DOI: 10.1038/mtna.2012.21
关键词
antisense oligonucleotide; CEP290; ciliogenesis repair; LCA; splice switching-mediated therapy
资金
- Association Retina France
- Fondation de France/Berthe Fouassier
Leber congenital amaurosis (LCA) is a severe hereditary retinal dystrophy responsible for congenital or early-onset blindness. The most common disease-causing mutation (> 10%) is located deep in intron 26 of the CEP290 gene (c. 2991+ 1655A> G). It creates a strong splice donor site that leads to insertion of a cryptic exon encoding a premature stop codon. In the present study, we show that the use of antisense oligonucleotides (AONs) allow an efficient skipping of the mutant cryptic exon and the restoration of ciliation in fibroblasts of affected patients. These data support the feasibility of an AON-mediated exon skipping strategy to correct the aberrant splicing.
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