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Article

Stargardt disease-associated missense and synonymous ABCA4 variants result in aberrant splicing.

Human molecular genetics - 17 Oct 2023

Kaltak Melita, Corradi Zelia, Collin Rob W J, Swildens Jim, Cremers Frans P M

Abstract excerpt

Missense variants in ABCA4 constitute ~50% of causal variants in Stargardt disease (STGD1). Their pathogenicity is attributed to their direct effect on protein function, whilst their potential impact on pre-mRNA splicing disruption remains poorly understood. Interestingly, synonymous ABCA4 variants have previously been classified as 'severe' variants based on in silico analyses. Here, we systemically investigated...

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PMID: 37555651
DOI: 10.1093/hmg/ddad129
PMCID: PMC10586196

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