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


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

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