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

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

Investigative ophthalmology & visual science（2022）

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摘要

The ABCA4 variant c.859-25A>G disrupts a predicted branchpoint, resulting in protein truncation because of different splice defects, and is associated with early-onset STGD1 when present in homozygosity. This variant was found in 25/525 Palestinian inherited retinal dystrophy probands, representing one of the most frequent inherited retinal disease-causing variants in West-Bank Palestine.

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关键词

ABCA4, Stargardt disease, SpliceAI, splice defect, founder mutation

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