Ontology highlight
ABSTRACT:
SUBMITTER: Garanto A
PROVIDER: S-EPMC6086559 | biostudies-literature | 2016 Jun
REPOSITORIES: biostudies-literature
Garanto Alejandro A Chung Daniel C DC Duijkers Lonneke L Corral-Serrano Julio C JC Messchaert Muriël M Xiao Ru R Bennett Jean J Vandenberghe Luk H LH Collin Rob W J RW
Human molecular genetics 20160422 12
Leber congenital amaurosis (LCA) is a severe disorder resulting in visual impairment usually starting in the first year of life. The most frequent genetic cause of LCA is an intronic mutation in CEP290 (c.2991 + 1655A > G) that creates a cryptic splice donor site resulting in the insertion of a pseudoexon (exon X) into CEP290 mRNA. Previously, we showed that naked antisense oligonucleotides (AONs) effectively restored normal CEP290 splicing in patient-derived lymphoblastoid cells. We here explor ...[more]