Clinical exome analysis and targeted gene repair of the c.1354dupT variant in iPSC lines from patients with PROM1-related retinopathies exhibiting diverse phenotypes.
Kevin Puertas-NeyraRosa M Coco-MartinLeticia A Hernandez-RodriguezDino GobelliYenisey Garcia-FerrerRaicel Palma-VecinoJuan José TelleríaMaria SimarroMiguel A de la FuenteIvan Fernandez-BuenoPublished in: Stem cell research & therapy (2024)
The c.1354dupT mutation in the PROM1 gene is associated to three distinct AR phenotypes of IRD. This pleotropic effect might be related to the influence of monoallelic variants in other genes associated with retinal dystrophies. However, further evidence needs to be provided. Future experiments should include gene-edited patient-derived iPSC due to its potential as disease modelling tools to elucidate this matter in question.