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
Summary
Together, these results confirm the pathogenicity of the c.1892A>G and c.2548G>A CRB1 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. © 2020 The Authors. Molecular Genetics & Genomic Medicine published by Wiley Periodicals LLC.
| Authors | Zhang X, Thompson JA, Zhang D, Charng J, Arunachalam S, McLaren TL, Lamey TM, De Roach JN, Jennings L, McLenachan S, Chen FK |
|---|---|
| Journal | Molecular genetics & genomic medicine |
| Publication Date | 2020 Nov;8(11):e1489 |
| PubMed | 32931148 |
| PubMed Central | PMC7667350 |
| DOI | 10.1002/mgg3.1489 |