Characterization of CRB1 splicing in retinal organoids derived from a patient with adult ‐onset rod‐cone dystrophy caused by the c.1892A > G and c.2548G > A variants

ConclusionsTogether, these results confirm the pathogenicity of the c.1892A>G and c.2548G>ACRB1 variants in a family with recessive adult ‐onset rod‐cone dystrophy and further demonstrate the effects of these variants on pre‐mRNA splicing. This data provide important insights into the pathogenic mechanisms associated with these variants.

Source: Molecular Genetics & Genomic Medicine - September 14, 2020 Category: Genetics & Stem Cells Authors: Xiao Zhang, Jennifer A. Thompson, Dan Zhang, Jason Charng, Sukanya Arunachalam, Terri L. McLaren, Tina M. Lamey, John N. De Roach, Luke Jennings, Samuel McLenachan, Fred K. Chen Tags: ORIGINAL ARTICLE Source Type: research