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18-Years of single-centre DNA testing in over 7000 index cases with inherited retinal dystrophies and optic neuropathies
Kiel, Christina, Biasella, Fabiola, Stöhr, Heidi, Rating, Philipp, Spital, Georg, Kellner, Ulrich, Hufendiek, Karsten, Huchzermeyer, Cord, Jaegle, Herbert, Ruether, Klaus und Weber, Bernhard H. F.
(2024)
18-Years of single-centre DNA testing in over 7000 index cases with inherited retinal dystrophies and optic neuropathies.
Scientific Reports 14 (1).
Veröffentlichungsdatum dieses Volltextes: 29 Okt 2024 07:36
Artikel
DOI zum Zitieren dieses Dokuments: 10.5283/epub.59446
Zusammenfassung
Inherited retinal dystrophies (IRDs) and inherited optic neuropathies (IONs) are characterized by distinct genetic causes and molecular mechanisms that can lead to varying degrees of visual impairment. The discovery of pathogenic variants in numerous genes associated with these conditions has deepened our understanding of the molecular pathways that influence both vision and disease manifestation ...
Inherited retinal dystrophies (IRDs) and inherited optic neuropathies (IONs) are characterized by distinct genetic causes and molecular mechanisms that can lead to varying degrees of visual impairment. The discovery of pathogenic variants in numerous genes associated with these conditions has deepened our understanding of the molecular pathways that influence both vision and disease manifestation and may ultimately lead to novel therapeutic approaches. Over the past 18 years, our DNA diagnostics unit has been performing genetic testing on patients suspected of having IRD or ION, using state-of-the-art mutation detection technologies that are continuously updated. This report presents a retrospective analysis of genetic data from 6237 IRD and 780 ION patients. Out of these, 3054 IRD patients (49.0%) and 211 ION patients (27.1%) received a definitive molecular diagnosis, with disease-causing variants identified in 139 different genes. The genes most implicated in disease pathologies are ABCA4, accounting for 23.8% of all IRD/ION index cases, followed by BEST1 (7.8%), USH2A (6.2%), PRPH2 (5.7%), RPGR (5.6%), RS1 (5.5%), OPA1 (4.3%), and RHO (3.1%). Our study has compiled the most extensive dataset in combined IRD/ION diagnostics to date and offers valuable insights into the frequencies of mutant alleles and the efficiency of mutation detection in various inherited retinal conditions.
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Details
| Dokumentenart | Artikel | ||||
| Titel eines Journals oder einer Zeitschrift | Scientific Reports | ||||
| Verlag: | Springer | ||||
|---|---|---|---|---|---|
| Band: | 14 | ||||
| Nummer des Zeitschriftenheftes oder des Kapitels: | 1 | ||||
| Datum | 26 Oktober 2024 | ||||
| Institutionen | Medizin > Lehrstuhl für Augenheilkunde Medizin > Lehrstuhl für Humangenetik | ||||
| Identifikationsnummer |
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| Stichwörter / Keywords | Inherited retinal disease, IRD, DNA testing, Next-generation sequencing, Genetic variants, Diagnostic yield | ||||
| Dewey-Dezimal-Klassifikation | 600 Technik, Medizin, angewandte Wissenschaften > 610 Medizin | ||||
| Status | Veröffentlicht | ||||
| Begutachtet | Ja, diese Version wurde begutachtet | ||||
| An der Universität Regensburg entstanden | Zum Teil | ||||
| URN der UB Regensburg | urn:nbn:de:bvb:355-epub-594465 | ||||
| Dokumenten-ID | 59446 |
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