Article
Functional Characterization of ABCA4 Missense Variants Aids Variant Interpretation and Phenotype Prediction in Patients With ABCA4-Retinal Dystrophies.
Investigative ophthalmology & visual science - 1 Aug 2024
Aslaksen Sigrid, Aukrust Ingvild, Molday Laurie, Holtan Josephine Prener, Jansson Ragnhild Wivestad, Berland Siren, Rødahl Eyvind, Bredrup Cecilie, Bragadóttir Ragnheiður, Bratland Eirik, Molday Robert S, Knappskog Per Morten
Abstract excerpt
Purpose: Biallelic pathogenic variants in the gene encoding the ATP-binding cassette transporter ABCA4 are the leading cause of irreversible vision loss in inherited retinal dystrophies (IRDs). Interpretation of ABCA4 variants is challenging, due to cis-modifying and hypomorphic variants. We have previously detected 10 missense variants of unknown significance (VUS) in patients with suspected ABCA4-retinal...
Topics
- Humans
- Mutation, Missense
- Retinal Dystrophies
- ATP-Binding Cassette Transporters
- Phenotype
- Female
- Male
- HEK293 Cells
- DNA Mutational Analysis