Molecular genetics of inherited retinal degenerations in Icelandic patients
Abstract 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 mol...
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crwiley:10.1111/cge.13967 2024-06-02T08:08:35+00:00 Molecular genetics of inherited retinal degenerations in Icelandic patients Thorsteinsson, Daniel A. Stefansdottir, Vigdis Eysteinsson, Thor Thorisdottir, Sigridur Jonsson, Jon J. 2021 http://dx.doi.org/10.1111/cge.13967 https://onlinelibrary.wiley.com/doi/pdf/10.1111/cge.13967 https://onlinelibrary.wiley.com/doi/full-xml/10.1111/cge.13967 en eng Wiley http://creativecommons.org/licenses/by-nc-nd/4.0/ Clinical Genetics volume 100, issue 2, page 156-167 ISSN 0009-9163 1399-0004 journal-article 2021 crwiley https://doi.org/10.1111/cge.13967 2024-05-03T11:14:57Z Abstract 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. Article in Journal/Newspaper Iceland Wiley Online Library Clinical Genetics 100 2 156 167 |
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description |
Abstract 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. |
format |
Article in Journal/Newspaper |
author |
Thorsteinsson, Daniel A. Stefansdottir, Vigdis Eysteinsson, Thor Thorisdottir, Sigridur Jonsson, Jon J. |
spellingShingle |
Thorsteinsson, Daniel A. Stefansdottir, Vigdis Eysteinsson, Thor Thorisdottir, Sigridur Jonsson, Jon J. Molecular genetics of inherited retinal degenerations in Icelandic patients |
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://dx.doi.org/10.1111/cge.13967 https://onlinelibrary.wiley.com/doi/pdf/10.1111/cge.13967 https://onlinelibrary.wiley.com/doi/full-xml/10.1111/cge.13967 |
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Iceland |
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Iceland |
op_source |
Clinical Genetics volume 100, issue 2, page 156-167 ISSN 0009-9163 1399-0004 |
op_rights |
http://creativecommons.org/licenses/by-nc-nd/4.0/ |
op_doi |
https://doi.org/10.1111/cge.13967 |
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Clinical Genetics |
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100 |
container_issue |
2 |
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156 |
op_container_end_page |
167 |
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1800753889246445568 |