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Mutations in Collag...
Mutations in Collagen, Type XVII, Alpha 1 (COL17A1) Cause Epithelial Recurrent Erosion Dystrophy (ERED)
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- Jonsson, Frida (author)
- Umeå universitet,Medicinsk och klinisk genetik
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- Byström, Berit (author)
- Umeå universitet,Oftalmiatrik
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- Davidson, Alice E. (author)
- UCL Institute of Ophthalmology, London, UK
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- Backman, Ludvig J. (author)
- Umeå universitet,Anatomi
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- Kellgren, Therese (author)
- Umeå universitet,Institutionen för matematik och matematisk statistik,Computational Life Science Cluster (CLiC)
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- Tuft, Stephen J. (author)
- UCL Institute of Ophthalmology, London, UK; Moorfields Eye Hospital, London, UK
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- Koskela, Timo (author)
- Koskelas Eye Clinic, Umeå, Sweden
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- Ryden, Patrik (author)
- Umeå universitet,Institutionen för matematik och matematisk statistik,Computational Life Science Cluster (CLiC)
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- Sandgren, Ola (author)
- Umeå universitet,Oftalmiatrik
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- Danielson, Patrik (author)
- Umeå universitet,Anatomi
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- Hardcastle, Alison J. (author)
- UCL Institute of Ophthalmology, London, UK
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- Golovleva, Irina (author)
- Umeå universitet,Medicinsk och klinisk genetik
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(creator_code:org_t)
- 2015-03-31
- 2015
- English.
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In: Human Mutation. - : John Wiley & Sons. - 1059-7794 .- 1098-1004. ; 36:4, s. 463-473
- Related links:
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https://urn.kb.se/re...
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https://doi.org/10.1...
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Abstract
Subject headings
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- 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.
Subject headings
- LANTBRUKSVETENSKAPER -- Veterinärmedicin -- Medicinsk biovetenskap (hsv//swe)
- AGRICULTURAL SCIENCES -- Veterinary Science -- Medical Bioscience (hsv//eng)
Keyword
- COL17A1
- BP180
- cornea dystrophy
- ERED
- ddPCR
Publication and Content Type
- ref (subject category)
- art (subject category)
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- By the author/editor
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Jonsson, Frida
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Byström, Berit
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Davidson, Alice ...
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Backman, Ludvig ...
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Kellgren, Theres ...
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Tuft, Stephen J.
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show more...
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Koskela, Timo
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Ryden, Patrik
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Sandgren, Ola
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Danielson, Patri ...
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Hardcastle, Alis ...
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Golovleva, Irina
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show less...
- About the subject
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- AGRICULTURAL SCIENCES
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AGRICULTURAL SCI ...
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and Veterinary Scien ...
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and Medical Bioscien ...
- Articles in the publication
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Human Mutation
- By the university
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Umeå University