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Molecular genetics of inherited retinal degenerations in Icelandic patients

Molecular genetics of inherited retinal degenerations in Icelandic patients

Title: Molecular genetics of inherited retinal degenerations in Icelandic patients
Author: Thorsteinsson, Daniel A.
Stefánsdóttir, Vigdís Fjóla
Eysteinsson, Þór
Thorisdottir, Sigridur
Jónsson, Jón Jóhannes
Date: 2021-08
Language: English
Scope: 12
Department: Clinical Laboratory Services, Diagnostics and Blood Bank
Faculty of Medicine
Other departments
Series: Clinical Genetics; 100(2)
ISSN: 0009-9163
DOI: 10.1111/cge.13967
Subject: Augnsjúkdómar; Arfgengi; Erfðafræði; Sjónhimna; eye diseases; genetics; hereditary; human genetics; Iceland; population; retinitis pigmentosa; Prevalence; Humans; Stargardt Disease/epidemiology; Eye Proteins/genetics; Optic Atrophy, Hereditary, Leber/epidemiology; Retinitis Pigmentosa/epidemiology; Carrier Proteins/genetics; Retinal Degeneration/genetics; Iceland/epidemiology; Usher Syndromes/epidemiology; Genetics (clinical); Genetics
URI: https://hdl.handle.net/20.500.11815/3059

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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


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.


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.

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