An Augmented ABCA4 Screen Targeting Noncoding Regions Reveals a Deep Intronic Founder Variant in Belgian Stargardt Patients. Issue 1 (January 2015)

• Record Type: Journal Article
• Authors: Bauwens, Miriam; De Zaeytijd, Julie; Weisschuh, Nicole; Kohl, Susanne; Meire, Françoise; Dahan, Karin; Depasse, Fanny; De Jaegere, Sarah; De Ravel, Thomy; De Rademaeker, Marjan; Loeys, Bart; Coppieters, Frauke; Leroy, Bart P.; De Baere, Elfride
• Is Part Of: Human mutation. Volume 36:Issue 1(2015:Jan.)
• Page Start: 39
• Page End: 42
• Publication Date: 2015-01
• Subjects: Human chromosome abnormalities -- Periodicals; Mutation (Biology) -- Periodicals; 616.04205
• DOI: 10.1002/humu.22716
• Languages: English
• ISSNs: 1059-7794

Abstract

<abstract abstract-type="graphical" xml:lang="en" id="humu22716-abs-0001"> <title> <x xml:space="preserve">Abstract</x> </title> <p>A and B: The deep intronic ABCA4 variant V4 (c.4539+2001G&gt;A), which has a predicted effect on splicing, occurs in almost 26% of a Belgian STGD1 cohort with one identified coding mutation. It is part of a shared haplotype block in these patients, indicative for a founder mutation. C. V4 has a moderate‐to‐severe effect on the STGD1 phenotype. <boxed-text content-type="graphic" position="anchor" orientation="portrait"><graphic position="anchor" mimetype="image" xlink:href="ark:/27927/pgh30vv3dts" orientation="portrait" xlink:type="simple" xmlns:xlink="http://www.w3.org/1999/xlink" /></boxed-text></p> </abstract>