Molecular genetics of inherited retinal degenerations in Icelandic patients
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 th...
Published in: | Clinical Genetics |
---|---|
Main Authors: | , , , , |
Format: | Text |
Language: | English |
Published: |
Blackwell Publishing Ltd
2021
|
Subjects: | |
Online Access: | http://www.ncbi.nlm.nih.gov/pmc/articles/PMC8360171/ http://www.ncbi.nlm.nih.gov/pubmed/33851411 https://doi.org/10.1111/cge.13967 |
id |
ftpubmed:oai:pubmedcentral.nih.gov:8360171 |
---|---|
record_format |
openpolar |
spelling |
ftpubmed:oai:pubmedcentral.nih.gov:8360171 2023-05-15T16:46:52+02:00 Molecular genetics of inherited retinal degenerations in Icelandic patients Thorsteinsson, Daniel A. Stefansdottir, Vigdis Eysteinsson, Thor Thorisdottir, Sigridur Jonsson, Jon J. 2021-05-07 http://www.ncbi.nlm.nih.gov/pmc/articles/PMC8360171/ http://www.ncbi.nlm.nih.gov/pubmed/33851411 https://doi.org/10.1111/cge.13967 en eng Blackwell Publishing Ltd http://www.ncbi.nlm.nih.gov/pmc/articles/PMC8360171/ http://www.ncbi.nlm.nih.gov/pubmed/33851411 http://dx.doi.org/10.1111/cge.13967 © 2021 The Authors. Clinical Genetics published by John Wiley & Sons Ltd. https://creativecommons.org/licenses/by-nc-nd/4.0/This is an open access article under the terms of the http://creativecommons.org/licenses/by-nc-nd/4.0/ (https://creativecommons.org/licenses/by-nc-nd/4.0/) License, which permits use and distribution in any medium, provided the original work is properly cited, the use is non‐commercial and no modifications or adaptations are made. CC-BY-NC-ND Clin Genet Original Articles Text 2021 ftpubmed https://doi.org/10.1111/cge.13967 2021-08-22T00:32:26Z 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. Text Iceland PubMed Central (PMC) Clinical Genetics 100 2 156 167 |
institution |
Open Polar |
collection |
PubMed Central (PMC) |
op_collection_id |
ftpubmed |
language |
English |
topic |
Original Articles |
spellingShingle |
Original Articles Thorsteinsson, Daniel A. Stefansdottir, Vigdis Eysteinsson, Thor Thorisdottir, Sigridur Jonsson, Jon J. Molecular genetics of inherited retinal degenerations in Icelandic patients |
topic_facet |
Original Articles |
description |
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 |
Text |
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 |
Blackwell Publishing Ltd |
publishDate |
2021 |
url |
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC8360171/ http://www.ncbi.nlm.nih.gov/pubmed/33851411 https://doi.org/10.1111/cge.13967 |
genre |
Iceland |
genre_facet |
Iceland |
op_source |
Clin Genet |
op_relation |
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC8360171/ http://www.ncbi.nlm.nih.gov/pubmed/33851411 http://dx.doi.org/10.1111/cge.13967 |
op_rights |
© 2021 The Authors. Clinical Genetics published by John Wiley & Sons Ltd. https://creativecommons.org/licenses/by-nc-nd/4.0/This is an open access article under the terms of the http://creativecommons.org/licenses/by-nc-nd/4.0/ (https://creativecommons.org/licenses/by-nc-nd/4.0/) License, which permits use and distribution in any medium, provided the original work is properly cited, the use is non‐commercial and no modifications or adaptations are made. |
op_rightsnorm |
CC-BY-NC-ND |
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 |
_version_ |
1766036959566757888 |