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Kiel, Christina ; Biasella, Fabiola ; Stöhr, Heidi ; Rating, Philipp ; Spital, Georg ; Kellner, Ulrich ; Hufendiek, Karsten ; Huchzermeyer, Cord ; Jaegle, Herbert ; Ruether, Klaus ; Weber, Bernhard H. F.

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

DokumentenartArtikel
Titel eines Journals oder einer ZeitschriftScientific Reports
Verlag:Springer
Band:14
Nummer des Zeitschriftenheftes oder des Kapitels:1
Datum26 Oktober 2024
InstitutionenMedizin > Lehrstuhl für Augenheilkunde
Medizin > Lehrstuhl für Humangenetik
Identifikationsnummer
WertTyp
10.1038/s41598-024-77014-4DOI
Stichwörter / KeywordsInherited retinal disease, IRD, DNA testing, Next-generation sequencing, Genetic variants, Diagnostic yield
Dewey-Dezimal-Klassifikation600 Technik, Medizin, angewandte Wissenschaften > 610 Medizin
StatusVeröffentlicht
BegutachtetJa, diese Version wurde begutachtet
An der Universität Regensburg entstandenZum Teil
URN der UB Regensburgurn:nbn:de:bvb:355-epub-594465
Dokumenten-ID59446

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