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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
Human mutation, April 2015, Letnik: 36, Številka: 4Journal Article
ABSTRACT Corneal dystrophies are a clinically and genetically heterogeneous group of inherited disorders that bilaterally affect corneal transparency. They are defined according to the corneal layer affected and by their genetic cause. In this study, we identified a dominantly inherited epithelial recurrent erosion dystrophy (ERED)‐like disease that is common in northern Sweden. Whole‐exome sequencing resulted in the identification of a novel mutation, c.2816C>T, p.T939I, in the COL17A1 gene, which encodes collagen type XVII alpha 1. The variant segregated with disease in a genealogically expanded pedigree dating back 200 years. We also investigated a unique COL17A1 synonymous variant, c.3156C>T, identified in a previously reported unrelated dominant ERED‐like family linked to a locus on chromosome 10q23‐q24 encompassing COL17A1. We show that this variant introduces a cryptic donor site resulting in aberrant pre‐mRNA splicing and is highly likely to be pathogenic. Bi‐allelic COL17A1 mutations have previously been associated with a recessive skin disorder, junctional epidermolysis bullosa, with recurrent corneal erosions being reported in some cases. Our findings implicate presumed gain‐of‐function COL17A1 mutations causing dominantly inherited ERED and improve understanding of the underlying pathology. 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.
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JCR | SNIP | JCR | SNIP | JCR | SNIP | JCR | SNIP |
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in: SICRIS
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