{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,12]],"date-time":"2025-10-12T03:20:57Z","timestamp":1760239257729,"version":"build-2065373602"},"reference-count":17,"publisher":"MDPI AG","issue":"11","license":[{"start":{"date-parts":[[2020,10,22]],"date-time":"2020-10-22T00:00:00Z","timestamp":1603324800000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"name":"National Science Center (Poland)","award":["UMO-2015\/19\/D\/NZ2\/03193"],"award-info":[{"award-number":["UMO-2015\/19\/D\/NZ2\/03193"]}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Genes"],"abstract":"<jats:p>CEP290 is a ciliary gene frequently mutated in ciliopathies, resulting in a broad range of phenotypes, ranging from isolated inherited retinal disorders (IRDs) to severe or lethal syndromes with multisystemic involvement. Patients with non-syndromic CEP290-linked disease experience profound and early vision loss due to cone-rod dystrophy, as in Leber congenital amaurosis. In this case report, we describe two novel loss-of-function heterozygous alterations in the CEP290 gene, discovered in a patient suffering from retinitis pigmentosa using massive parallel sequencing of a molecular inversion probes library constructed for 108 genes involved in IRDs. A milder phenotype than expected was found in the individual, which serves to prove that some CEP290-associated disorders may display preserved cone function.<\/jats:p>","DOI":"10.3390\/genes11111240","type":"journal-article","created":{"date-parts":[[2020,10,22]],"date-time":"2020-10-22T20:51:00Z","timestamp":1603399860000},"page":"1240","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":8,"title":["A Mild Phenotype Caused by Two Novel Compound Heterozygous Mutations in CEP290"],"prefix":"10.3390","volume":"11","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-1841-8638","authenticated-orcid":false,"given":"Agnieszka","family":"Rafalska","sequence":"first","affiliation":[{"name":"Department of Ophthalmology, Wroclaw Medical University, 50-556 Wroclaw, Poland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Anna M.","family":"Tracewska","sequence":"additional","affiliation":[{"name":"\u0141ukasiewicz Research Network\u2013PORT Polish Center for Research Technology, 54-066 Wroclaw, Poland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-6732-1851","authenticated-orcid":false,"given":"Anna","family":"Turno-Kr\u0119cicka","sequence":"additional","affiliation":[{"name":"Department of Ophthalmology, Wroclaw Medical University, 50-556 Wroclaw, Poland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-3927-8339","authenticated-orcid":false,"given":"Milena J.","family":"Szafraniec","sequence":"additional","affiliation":[{"name":"\u0141ukasiewicz Research Network\u2013PORT Polish Center for Research Technology, 54-066 Wroclaw, Poland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-4020-3203","authenticated-orcid":false,"given":"Marta","family":"Misiuk-Hoj\u0142o","sequence":"additional","affiliation":[{"name":"Department of Ophthalmology, Wroclaw Medical University, 50-556 Wroclaw, Poland"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"1968","published-online":{"date-parts":[[2020,10,22]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"1097","DOI":"10.1002\/humu.21337","article-title":"CEP290, a Gene with Many Faces: Mutation Overview and Presentation of CEP290base","volume":"31","author":"Coppieters","year":"2010","journal-title":"Hum. Mutat."},{"key":"ref_2","first-page":"2160","article-title":"Frequency of CEP290 c.2991_1655A>G Mutation in 175 Spanish Families Affected with Leber Congenital Amaurosis and Early-Onset Retinitis Pigmentosa","volume":"13","author":"Vallespin","year":"2007","journal-title":"Mol. Vis."},{"key":"ref_3","doi-asserted-by":"crossref","unstructured":"Tracewska, A.M., Kocy\u0142a-Karczmarewicz, B., Rafalska, A., Murawska, J., Jakubaszko-Jablonska, J., Rydzanicz, M., Stawi\u0144ski, P., Ciara, E., Khan, M.I., and Henkes, A. (2019). Genetic Spectrum of ABCA4-Associated Retinal Degeneration in Poland. Genes, 10.","DOI":"10.3390\/genes10120959"},{"key":"ref_4","doi-asserted-by":"crossref","unstructured":"Weisschuh, N., Feldhaus, B., Khan, M.I., Cremers, F.P.M., Kohl, S., Wissinger, B., and Zobor, D. (2018). Molecular and clinical analysis of 27 German patients with Leber congenital amaurosis. 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Hum. Genet."},{"key":"ref_14","doi-asserted-by":"crossref","first-page":"18287","DOI":"10.1038\/srep18287","article-title":"NGS-Based Molecular Diagnosis of 105 EyeGENE \u00ae Probands with Retinitis Pigmentosa","volume":"5","author":"Ge","year":"2015","journal-title":"Sci. Rep."},{"key":"ref_15","doi-asserted-by":"crossref","unstructured":"Birtel, J., Gliem, M., Mangold, E., M\u00fcller, P.L., Holz, F.G., Neuhaus, C., Lenzner, S., Zahnleiter, D., Betz, C., and Eisenberger, T. (2018). Next-Generation Sequencing Identifies Unexpected Genotype-Phenotype Correlations in Patients with Retinitis Pigmentosa. 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