Stargardt disease-associated in-frame ABCA4 exon 17 skipping results in significant ABCA4 function.

Melita KaltakRocio Blanco-GaravitoLaurie L MoldayClaire-Marie DhaenensEric E SouiedGerard PlatenburgJim SwildensRobert S MoldayFrans P M Cremers

Published in: Journal of translational medicine (2023)

Exon 17 deletion in ABCA4 does not result in the absence of protein activity and does not cause a severe STGD1 phenotype when in trans with a null allele. By applying AONs, the effect of severe variants in exon 17 can potentially be ameliorated by exon skipping, thus generating partial ABCA4 activity in STGD1 patients.

Keyphrases

end stage renal disease
ejection fraction
newly diagnosed
chronic kidney disease
early onset
peritoneal dialysis
prognostic factors
copy number
gene expression
amino acid