AON-mediated Exon Skipping Restores Ciliation in Fibroblasts Harboring the Common Leber Congenital Amaurosis CEP290 Mutation

• Main Authors: Xavier Gerard (Author), Isabelle Perrault (Author), Sylvain Hanein (Author), Eduardo Silva (Author), Karine Bigot (Author), Sabine Defoort-Delhemmes (Author), Marlèene Rio (Author), Arnold Munnich (Author), Daniel Scherman (Author), Josseline Kaplan (Author), Antoine Kichler (Author), Jean-Michel Rozet (Author)
• Format: Book
• Published: Elsevier, 2012-01-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

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 i...