Mutations in Collagen, Type XVII, Alpha 1 (COL17A1) Cause Epithelial Recurrent Erosion Dystrophy (ERED). Issue 4 (April 2015)

• Record Type: Journal Article
• Authors: Jonsson, Frida; Byström, Berit; Davidson, Alice E.; Backman, Ludvig J.; Kellgren, Therese G.; Tuft, Stephen J.; Koskela, Timo; Rydén, Patrik; Sandgren, Ola; Danielson, Patrik; Hardcastle, Alison J.; Golovleva, Irina
• Is Part Of: Human mutation. Volume 36:Issue 4(2015:Apr.)
• Page Start: 463
• Page End: 473
• Publication Date: 2015-04
• Subjects: Human chromosome abnormalities -- Periodicals; Mutation (Biology) -- Periodicals; 616.04205
• DOI: 10.1002/humu.22764
• Languages: English
• ISSNs: 1059-7794

Abstract

<abstract abstract-type="graphical" xml:lang="en" id="humu22764-abs-0001"> <title> <x xml:space="preserve">Abstract</x> </title> <p>A novel missence mutation in the <italic>COL17A1</italic> gene, which encodes collagen type XVII alpha 1 was identified as a cause of corneal dystrophy in a large Swedish family. Furthermore, we showed that in a previously reported unrelated family silent COL17A1 variant introduces a cryptic donor site resulting in aberrant premRNA splicing. Our findings highlight importance of COL17A1 mutation analysis in patients with corneal dystrophy. <boxed-text content-type="graphic" position="anchor" orientation="portrait"><graphic position="anchor" mimetype="image" xlink:href="ark:/27927/pgjdndb2bj" orientation="portrait" xlink:type="simple" xmlns:xlink="http://www.w3.org/1999/xlink" /></boxed-text></p> </abstract>