Opin vísindi

Molecular genetics of inherited retinal degenerations in Icelandic patients

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dc.contributor.author Thorsteinsson, Daniel A.
dc.contributor.author Stefánsdóttir, Vigdís Fjóla
dc.contributor.author Eysteinsson, Þór
dc.contributor.author Thorisdottir, Sigridur
dc.contributor.author Jónsson, Jón Jóhannes
dc.date.accessioned 2022-04-14T01:02:14Z
dc.date.available 2022-04-14T01:02:14Z
dc.date.issued 2021-08
dc.identifier.citation Thorsteinsson , D A , Stefánsdóttir , V F , Eysteinsson , Þ , Thorisdottir , S & Jónsson , J J 2021 , ' Molecular genetics of inherited retinal degenerations in Icelandic patients ' , Clinical Genetics , vol. 100 , no. 2 , pp. 156-167 . https://doi.org/10.1111/cge.13967
dc.identifier.issn 0009-9163
dc.identifier.other 41719488
dc.identifier.other 815b3b35-62c2-4b61-843b-5ee924566fa7
dc.identifier.other 85105052164
dc.identifier.other 33851411
dc.identifier.uri https://hdl.handle.net/20.500.11815/3059
dc.description Funding Information: Blindrafelagid, the Icelandic Association of the Visually Impaired, for encouraging and funding this project. The Icelandic National Institute for the Blind, Visually Impaired, and Deafblind for information on the number of IRD patients. The staff in the Department of Genetics and Molecular Medicine, for aiding in data collection and the use of the Icelandic Genealogical Database. Dr. Patrick Sulem at deCode Genetics, for providing information on allele frequencies. Publisher Copyright: © 2021 The Authors. Clinical Genetics published by John Wiley & Sons Ltd.
dc.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.
dc.format.extent 12
dc.format.extent 1437192
dc.format.extent 156-167
dc.language.iso en
dc.relation.ispartofseries Clinical Genetics; 100(2)
dc.rights info:eu-repo/semantics/openAccess
dc.subject Augnsjúkdómar
dc.subject Arfgengi
dc.subject Erfðafræði
dc.subject Sjónhimna
dc.subject eye diseases
dc.subject genetics
dc.subject hereditary
dc.subject human genetics
dc.subject Iceland
dc.subject population
dc.subject retinitis pigmentosa
dc.subject Prevalence
dc.subject Humans
dc.subject Stargardt Disease/epidemiology
dc.subject Eye Proteins/genetics
dc.subject Optic Atrophy, Hereditary, Leber/epidemiology
dc.subject Retinitis Pigmentosa/epidemiology
dc.subject Carrier Proteins/genetics
dc.subject Retinal Degeneration/genetics
dc.subject Iceland/epidemiology
dc.subject Usher Syndromes/epidemiology
dc.subject Genetics (clinical)
dc.subject Genetics
dc.title Molecular genetics of inherited retinal degenerations in Icelandic patients
dc.type /dk/atira/pure/researchoutput/researchoutputtypes/contributiontojournal/article
dc.description.version Peer reviewed
dc.identifier.doi 10.1111/cge.13967
dc.relation.url http://www.scopus.com/inward/record.url?scp=85105052164&partnerID=8YFLogxK
dc.contributor.department Clinical Laboratory Services, Diagnostics and Blood Bank
dc.contributor.department Faculty of Medicine
dc.contributor.department Other departments

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