Molecular genetics of inherited retinal degenerations in Icelandic patients.
To access publisher's full text version of this article, please click on the hyperlink in Additional Links field or click on the hyperlink at the top of the page marked Download The study objective was to delineate the genetics of inherited retinal degenerations (IRDs) in Iceland, a small natio...
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ftlandspitaliuni:oai:www.hirsla.lsh.is:2336/621873 2023-05-15T16:46:04+02:00 Molecular genetics of inherited retinal degenerations in Icelandic patients. Thorsteinsson, Daniel A Stefansdottir, Vigdis Eysteinsson, Thor Thorisdottir, Sigridur Jonsson, Jon J 1Faculty of Medicine, University of Iceland, Reykjavik, Iceland. 2Department of Genetics and Molecular Medicine, Landspitali - National University Hospital of Iceland, Reykjavik, Iceland. 3Department of Physiology, BioMedical Center, Faculty of Medicine, University of Iceland, Reykjavik, Iceland. 4Department of Ophthalmology, Landspitali - National University Hospital of Iceland, Reykjavik, Iceland. 5Department of Biochemistry and Molecular Biology, BioMedical Center, Faculty of Medicine, University of Iceland, Reykjavik, Iceland. 2021-09 http://hdl.handle.net/2336/621873 https://doi.org/10.1111/cge.13967 en eng Wiley https://onlinelibrary.wiley.com/doi/10.1111/cge.13967 https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8360171/ Thorsteinsson DA, Stefansdottir V, Eysteinsson T, Thorisdottir S, Jonsson JJ. Molecular genetics of inherited retinal degenerations in Icelandic patients. Clin Genet. 2021 Aug;100(2):156-167. doi:10.1111/cge.13967. 33851411 doi:10.1111/cge.13967 http://hdl.handle.net/2336/621873 1399-0004 Clinical genetics © 2021 The Authors. Clinical Genetics published by John Wiley & Sons Ltd. Open Access - Opinn aðgangur Clinical genetics 100 2 156 167 Denmark Iceland eye diseases genetics hereditary human genetics population retinitis pigmentosa Augnsjúkdómar Sjónhimna Gen Retinal Degeneration Article Other 2021 ftlandspitaliuni https://doi.org/10.1111/cge.13967 2022-05-29T08:22:39Z To access publisher's full text version of this article, please click on the hyperlink in Additional Links field or click on the hyperlink at the top of the page marked Download The study objective was to delineate the genetics of inherited retinal degenerations (IRDs) in Iceland, a small nation of 364.000 and a genetic isolate. Benefits include delineating novel pathogenic genetic variants and defining genetically homogenous patients as potential investigative molecular therapy candidates. The study sample comprised patients with IRD in Iceland ascertained through national centralized genetic and ophthalmological services at Landspitali, a national social support institute, and the Icelandic patient association. Information on patients' disease, syndrome, and genetic testing was collected in a clinical registry. Variants were reevaluated according to ACMG/AMP guidelines. Overall, 140 IRD patients were identified (point prevalence of 1/2.600), of which 70 patients had a genetic evaluation where two-thirds had an identified genetic cause. Thirteen disease genes were found in patients with retinitis pigmentosa, with the RLBP1 gene most common (n = 4). The c.1073 + 5G > A variant in the PRPF31 gene was homozygous in two RP patients. All tested patients with X-linked retinoschisis (XLRS) had the same possibly unique RS1 pathogenic variant, c.441G > A (p.Trp147X). Pathologic variants and genes for IRDs in Iceland did not resemble those described in ancestral North-Western European nations. Four variants were reclassified as likely pathogenic. One novel pathogenic variant defined a genetically homogenous XLRS patient group. Keywords: Iceland; eye diseases; genetics; hereditary; human genetics; population; retinitis pigmentosa. Icelandic Student Innovation Fund Icelandic Association of the Visually Impaired Richard P. Theodore and Dora Sigurjonsdottir Fund for improving scientific knowledge on blindness Article in Journal/Newspaper Iceland Hirsla - Landspítali University Hospital research archive Theodore ENVELOPE(-62.450,-62.450,-64.933,-64.933) Clinical Genetics 100 2 156 167 |
institution |
Open Polar |
collection |
Hirsla - Landspítali University Hospital research archive |
op_collection_id |
ftlandspitaliuni |
language |
English |
topic |
Iceland eye diseases genetics hereditary human genetics population retinitis pigmentosa Augnsjúkdómar Sjónhimna Gen Retinal Degeneration |
spellingShingle |
Iceland eye diseases genetics hereditary human genetics population retinitis pigmentosa Augnsjúkdómar Sjónhimna Gen Retinal Degeneration Thorsteinsson, Daniel A Stefansdottir, Vigdis Eysteinsson, Thor Thorisdottir, Sigridur Jonsson, Jon J Molecular genetics of inherited retinal degenerations in Icelandic patients. |
topic_facet |
Iceland eye diseases genetics hereditary human genetics population retinitis pigmentosa Augnsjúkdómar Sjónhimna Gen Retinal Degeneration |
description |
To access publisher's full text version of this article, please click on the hyperlink in Additional Links field or click on the hyperlink at the top of the page marked Download The study objective was to delineate the genetics of inherited retinal degenerations (IRDs) in Iceland, a small nation of 364.000 and a genetic isolate. Benefits include delineating novel pathogenic genetic variants and defining genetically homogenous patients as potential investigative molecular therapy candidates. The study sample comprised patients with IRD in Iceland ascertained through national centralized genetic and ophthalmological services at Landspitali, a national social support institute, and the Icelandic patient association. Information on patients' disease, syndrome, and genetic testing was collected in a clinical registry. Variants were reevaluated according to ACMG/AMP guidelines. Overall, 140 IRD patients were identified (point prevalence of 1/2.600), of which 70 patients had a genetic evaluation where two-thirds had an identified genetic cause. Thirteen disease genes were found in patients with retinitis pigmentosa, with the RLBP1 gene most common (n = 4). The c.1073 + 5G > A variant in the PRPF31 gene was homozygous in two RP patients. All tested patients with X-linked retinoschisis (XLRS) had the same possibly unique RS1 pathogenic variant, c.441G > A (p.Trp147X). Pathologic variants and genes for IRDs in Iceland did not resemble those described in ancestral North-Western European nations. Four variants were reclassified as likely pathogenic. One novel pathogenic variant defined a genetically homogenous XLRS patient group. Keywords: Iceland; eye diseases; genetics; hereditary; human genetics; population; retinitis pigmentosa. Icelandic Student Innovation Fund Icelandic Association of the Visually Impaired Richard P. Theodore and Dora Sigurjonsdottir Fund for improving scientific knowledge on blindness |
author2 |
1Faculty of Medicine, University of Iceland, Reykjavik, Iceland. 2Department of Genetics and Molecular Medicine, Landspitali - National University Hospital of Iceland, Reykjavik, Iceland. 3Department of Physiology, BioMedical Center, Faculty of Medicine, University of Iceland, Reykjavik, Iceland. 4Department of Ophthalmology, Landspitali - National University Hospital of Iceland, Reykjavik, Iceland. 5Department of Biochemistry and Molecular Biology, BioMedical Center, Faculty of Medicine, University of Iceland, Reykjavik, Iceland. |
format |
Article in Journal/Newspaper |
author |
Thorsteinsson, Daniel A Stefansdottir, Vigdis Eysteinsson, Thor Thorisdottir, Sigridur Jonsson, Jon J |
author_facet |
Thorsteinsson, Daniel A Stefansdottir, Vigdis Eysteinsson, Thor Thorisdottir, Sigridur Jonsson, Jon J |
author_sort |
Thorsteinsson, Daniel A |
title |
Molecular genetics of inherited retinal degenerations in Icelandic patients. |
title_short |
Molecular genetics of inherited retinal degenerations in Icelandic patients. |
title_full |
Molecular genetics of inherited retinal degenerations in Icelandic patients. |
title_fullStr |
Molecular genetics of inherited retinal degenerations in Icelandic patients. |
title_full_unstemmed |
Molecular genetics of inherited retinal degenerations in Icelandic patients. |
title_sort |
molecular genetics of inherited retinal degenerations in icelandic patients. |
publisher |
Wiley |
publishDate |
2021 |
url |
http://hdl.handle.net/2336/621873 https://doi.org/10.1111/cge.13967 |
long_lat |
ENVELOPE(-62.450,-62.450,-64.933,-64.933) |
geographic |
Theodore |
geographic_facet |
Theodore |
genre |
Iceland |
genre_facet |
Iceland |
op_source |
Clinical genetics 100 2 156 167 Denmark |
op_relation |
https://onlinelibrary.wiley.com/doi/10.1111/cge.13967 https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8360171/ Thorsteinsson DA, Stefansdottir V, Eysteinsson T, Thorisdottir S, Jonsson JJ. Molecular genetics of inherited retinal degenerations in Icelandic patients. Clin Genet. 2021 Aug;100(2):156-167. doi:10.1111/cge.13967. 33851411 doi:10.1111/cge.13967 http://hdl.handle.net/2336/621873 1399-0004 Clinical genetics |
op_rights |
© 2021 The Authors. Clinical Genetics published by John Wiley & Sons Ltd. Open Access - Opinn aðgangur |
op_doi |
https://doi.org/10.1111/cge.13967 |
container_title |
Clinical Genetics |
container_volume |
100 |
container_issue |
2 |
container_start_page |
156 |
op_container_end_page |
167 |
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1766036192029048832 |