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Sökning: WFRF:(Backman Ludvig J.) > Mutations in Collag...

LIBRIS Formathandbok  (Information om MARC21)
FältnamnIndikatorerMetadata
00004427naa a2200493 4500
001oai:DiVA.org:umu-103155
003SwePub
008150518s2015 | |||||||||||000 ||eng|
0247 a https://urn.kb.se/resolve?urn=urn:nbn:se:umu:diva-1031552 URI
0247 a https://doi.org/10.1002/humu.227642 DOI
040 a (SwePub)umu
041 a engb eng
042 9 SwePub
072 7a ref2 swepub-contenttype
072 7a art2 swepub-publicationtype
1001 a Jonsson, Fridau Umeå universitet,Medicinsk och klinisk genetik4 aut0 (Swepub:umu)frajon98
2451 0a Mutations in Collagen, Type XVII, Alpha 1 (COL17A1) Cause Epithelial Recurrent Erosion Dystrophy (ERED)
264 c 2015-03-31
264 1b John Wiley & Sons,c 2015
338 a print2 rdacarrier
500 a Contract grant sponsors: Umeå University and Västerbotten County Council, Research and Development Foundation sponsored by Västerbotten County Council, Cronqvists Stiftelse (administered by The Swedish Society of Medicine); Ögonfonden, Stiftelsen KMA; the National Swedish Research Council (521-2013-2612); National Institute for Health Research Biomedical Research Centre at Moorfields Eye Hospital and UCL Institute of Ophthalmology; Moorfields Special Trustees; Moorfields Eye Charity; the Lanvern foundation.
520 a 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.
650 7a LANTBRUKSVETENSKAPERx Veterinärmedicinx Medicinsk biovetenskap0 (SwePub)403012 hsv//swe
650 7a AGRICULTURAL SCIENCESx Veterinary Sciencex Medical Bioscience0 (SwePub)403012 hsv//eng
653 a COL17A1
653 a BP180
653 a cornea dystrophy
653 a ERED
653 a ddPCR
7001 a Byström, Beritu Umeå universitet,Oftalmiatrik4 aut0 (Swepub:umu)beby0002
7001 a Davidson, Alice E.u UCL Institute of Ophthalmology, London, UK4 aut
7001 a Backman, Ludvig J.u Umeå universitet,Anatomi4 aut0 (Swepub:umu)lugban04
7001 a Kellgren, Thereseu Umeå universitet,Institutionen för matematik och matematisk statistik,Computational Life Science Cluster (CLiC)4 aut0 (Swepub:umu)thegan04
7001 a Tuft, Stephen J.u UCL Institute of Ophthalmology, London, UK; Moorfields Eye Hospital, London, UK4 aut
7001 a Koskela, Timou Koskelas Eye Clinic, Umeå, Sweden4 aut
7001 a Ryden, Patriku Umeå universitet,Institutionen för matematik och matematisk statistik,Computational Life Science Cluster (CLiC)4 aut0 (Swepub:umu)pary0001
7001 a Sandgren, Olau Umeå universitet,Oftalmiatrik4 aut0 (Swepub:umu)olsa0001
7001 a Danielson, Patriku Umeå universitet,Anatomi4 aut0 (Swepub:umu)pakdan00
7001 a Hardcastle, Alison J.u UCL Institute of Ophthalmology, London, UK4 aut
7001 a Golovleva, Irinau Umeå universitet,Medicinsk och klinisk genetik4 aut0 (Swepub:umu)irgo0001
7102 a Umeå universitetb Medicinsk och klinisk genetik4 org
7730 t Human Mutationd : John Wiley & Sonsg 36:4, s. 463-473q 36:4<463-473x 1059-7794x 1098-1004
8564 8u https://urn.kb.se/resolve?urn=urn:nbn:se:umu:diva-103155
8564 8u https://doi.org/10.1002/humu.22764

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