Mutations in Collagen, Type XVII, Alpha 1 (COL17A1) Cause Epithelial Recurrent Erosion Dystrophy (ERED). Issue 4 (April 2015) - Jonsson, Frida
Abstract A novel missence mutation in the COL17A1 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.