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Article

ABCA4 c.859-25A>G, a Frequent Palestinian Founder Mutation Affecting the Intron 7 Branchpoint, Is Associated With Early-Onset Stargardt Disease.

Investigative ophthalmology & visual science - 1 Apr 2022

Corradi Zelia, Salameh Manar, Khan Mubeen, Héon Elise, Mishra Ketan, Hitti-Malin Rebekkah J, AlSwaiti Yahya, Aslanian Alice, Banin Eyal, Brooks Brian P, Zein Wadih M, Hufnagel Robert B, Roosing Susanne, Dhaenens Claire-Marie, Sharon Dror, Cremers Frans P M, AlTalbishi Alaa

Abstract excerpt

Purpose: The effect of noncoding variants is often unknown in the absence of functional assays. Here, we characterized an ABCA4 intron 7 variant, c.859-25A>G, identified in Palestinian probands with Stargardt disease (STGD) or cone-rod dystrophy (CRD). We investigated the effect of this variant on the ABCA4 mRNA and retinal phenotype, and its prevalence in Palestine. Methods: The ABCA4 gene was sequenced...

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Identifiers

PMID: 35475888
DOI: 10.1167/iovs.63.4.20
PMCID: PMC9055564

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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