{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,12]],"date-time":"2026-06-12T16:09:51Z","timestamp":1781280591845,"version":"3.54.1"},"reference-count":48,"publisher":"MDPI AG","issue":"8","license":[{"start":{"date-parts":[[2021,8,20]],"date-time":"2021-08-20T00:00:00Z","timestamp":1629417600000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Genes"],"abstract":"<jats:p>Retinal dystrophies (RD) are clinically and genetically heterogenous disorders showing mutations in over 270 disease-associated genes. Several millions of people worldwide are affected with different types of RD. Studying the relevance of disease-associated sequence alterations will assist in understanding disorders and may lead to the development of therapeutic approaches. Here, we established a whole exome sequencing (WES) pipeline to rapidly identify disease-associated mutations in patients. Sanger sequencing was applied to identify deep-intronic variants and to verify the co-segregation of WES results within families. We analyzed 26 unrelated patients with different syndromic and non-syndromic clinical manifestations of RD. All patients underwent ophthalmic examinations. We identified nine novel disease-associated sequence variants among 37 variants identified in total. The sequence variants located to 17 different genes. Interestingly, two cases presenting with Stargardt disease carried deep-intronic variants in ABCA4. We have classified 21 variants as pathogenic variants, 4 as benign\/likely benign variants, and 12 as variants of uncertain significance. This study highlights the importance of WES-based mutation analyses in RD patients supporting clinical decisions, broadly based genetic diagnosis and support genetic counselling. It is essential for any genetic therapy to expand the mutation spectrum, understand the genes\u2019 function, and correlate phenotypes with genotypes.<\/jats:p>","DOI":"10.3390\/genes12081269","type":"journal-article","created":{"date-parts":[[2021,8,20]],"date-time":"2021-08-20T08:44:45Z","timestamp":1629449085000},"page":"1269","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":6,"title":["High-Throughput Sequencing to Identify Mutations Associated with Retinal Dystrophies"],"prefix":"10.3390","volume":"12","author":[{"given":"Fei","family":"Song","sequence":"first","affiliation":[{"name":"Human Genetics Faculty VI-School of Medicine and Health Sciences, University of Oldenburg, Ammerl\u00e4nder Heerstrasse 114-118, 26129 Oldenburg, Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marta","family":"Owczarek-Lipska","sequence":"additional","affiliation":[{"name":"Human Genetics Faculty VI-School of Medicine and Health Sciences, University of Oldenburg, Ammerl\u00e4nder Heerstrasse 114-118, 26129 Oldenburg, Germany"},{"name":"Research Center Neurosensory Science, University of Oldenburg, 26129 Oldenburg, Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tim","family":"Ahmels","sequence":"additional","affiliation":[{"name":"Department of Ophthalmology, Pius-Hospital, University of Oldenburg, 26121 Oldenburg, Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marius","family":"Book","sequence":"additional","affiliation":[{"name":"Eye Centre at the St. Franziskus Hospital, 48145 M\u00fcnster, Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sabine","family":"Aisenbrey","sequence":"additional","affiliation":[{"name":"Department of Ophthalmology, Vivantes Health Network Ltd., Neuk\u00f6lln Hospital, 12351 Berlin, Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Moreno","family":"Menghini","sequence":"additional","affiliation":[{"name":"Department of Ophthalmology, Ospedale Regionale di Lugano, 6900 Lugano, Switzerland"},{"name":"Department of Ophthalmology, University Hospital Zurich, University of Zurich, 8091 Zurich, Switzerland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Daniel","family":"Barthelmes","sequence":"additional","affiliation":[{"name":"Department of Ophthalmology, University Hospital Zurich, University of Zurich, 8091 Zurich, Switzerland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Stefan","family":"Schrader","sequence":"additional","affiliation":[{"name":"Department of Ophthalmology, Pius-Hospital, University of Oldenburg, 26121 Oldenburg, Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Georg","family":"Spital","sequence":"additional","affiliation":[{"name":"Eye Centre at the St. Franziskus Hospital, 48145 M\u00fcnster, Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-9205-8394","authenticated-orcid":false,"given":"John","family":"Neidhardt","sequence":"additional","affiliation":[{"name":"Human Genetics Faculty VI-School of Medicine and Health Sciences, University of Oldenburg, Ammerl\u00e4nder Heerstrasse 114-118, 26129 Oldenburg, Germany"},{"name":"Research Center Neurosensory Science, University of Oldenburg, 26129 Oldenburg, Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1968","published-online":{"date-parts":[[2021,8,20]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"335","DOI":"10.1016\/j.preteyeres.2010.03.004","article-title":"The molecular basis of human retinal and vitreoretinal diseases","volume":"29","author":"Berger","year":"2010","journal-title":"Prog. 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