Article
The Common ABCA4 Variant p.Asn1868Ile Shows Nonpenetrance and Variable Expression of Stargardt Disease When Present in trans With Severe Variants.
Investigative ophthalmology & visual science - 2 Jul 2018
Runhart Esmee H, Sangermano Riccardo, Cornelis Stéphanie S, Verheij Joke B G M, Plomp Astrid S, Boon Camiel J F, Lugtenberg Dorien, Roosing Susanne, Bax Nathalie M, Blokland Ellen A W, Jacobs-Camps Marlie H M, van der Velde-Visser Saskia D, Pott Jan-Willem R, Rohrschneider Klaus, Thiadens Alberta A H J, Klaver Caroline C W, van den Born L Ingeborgh, Hoyng Carel B, Cremers Frans P M
Abstract excerpt
Purpose: To assess the occurrence and the disease expression of the common p.Asn1868Ile variant in patients with Stargardt disease (STGD1) harboring known, monoallelic causal ABCA4 variants. Methods: The coding and noncoding regions of ABCA4 were sequenced in 67 and 63 STGD1 probands respectively, harboring monoallelic ABCA4 variants. In case p.Asn1868Ile was detected, segregation analysis was performed whenever...
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