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.

Xiao ZhangJennifer A ThompsonDan ZhangJason CharngSukanya ArunachalamTerri L McLarenTina M LameyJohn N De RoachLuke JenningsSamuel McLenachan Fred K Chen

Published in: Molecular genetics & genomic medicine (2020)

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.

Keyphrases

copy number
early onset
optical coherence tomography
case report
gene expression
escherichia coli
dna methylation
big data
staphylococcus aureus
biofilm formation