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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.

Molecular genetics & genomic medicine - 1 Nov 2020

Zhang Xiao, Thompson Jennifer A, Zhang Dan, Charng Jason, Arunachalam Sukanya, McLaren Terri L, Lamey Tina M, De Roach John N, Jennings Luke, McLenachan Samuel, Chen Fred K

Abstract excerpt

BACKGROUND: Mutations in the human crumbs homologue 1 (CRB1) gene are associated with a spectrum of inherited retinal diseases. However, functional studies demonstrating the impact of individual CRB1 mutations on gene expression are lacking for most variants. Here, we investigated the effect of two CRB1 variants on pre-mRNA splicing using neural retinal organoids (NRO) derived from a patient with recessive...

Topics

Cells, Cultured
Cone-Rod Dystrophies
Eye Proteins
Female
Humans
Induced Pluripotent Stem Cells
Membrane Proteins
Middle Aged
Mutation
Nerve Tissue Proteins

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Organoids

RNA Splicing

Retina

Source

Open in PubMed Open full text

Identifiers

PMID: 32931148
DOI: 10.1002/mgg3.1489
PMCID: PMC7667350

Genes

CRB1

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 31 Aug 2026.

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