{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,15]],"date-time":"2026-07-15T07:05:48Z","timestamp":1784099148630,"version":"3.55.0"},"reference-count":27,"publisher":"Wiley","issue":"5","license":[{"start":{"date-parts":[[2023,8,31]],"date-time":"2023-08-31T00:00:00Z","timestamp":1693440000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Pigment Cell Melanoma Res"],"published-print":{"date-parts":[[2024,9]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>\n                    Oculocutaneous albinism type 2 (OCA2) is the second most frequent form of albinism and represents about 30% of OCA worldwide. As with all types of OCA, patients present with hypopigmentation of hair and skin, as well as severe visual abnormalities. We focused on a subgroup of 29 patients for whom genetic diagnosis was pending because at least one of their identified variants in or around exon 10 of\n                    <jats:italic>OCA2<\/jats:italic>\n                    is of uncertain significance (VUS). By minigene assay, we investigated the effect of these VUS on exon 10 skipping and showed that not only intronic but also some synonymous variants can result in enhanced exon skipping. We further found that excessive skipping of exon 10 could be detected directly on blood samples of patients and of their one parent with the causal variant, avoiding invasive skin biopsies. Moreover, we show that variants, which result in lack of detectable\n                    <jats:italic>OCA2<\/jats:italic>\n                    mRNA can be identified from blood samples as well, as shown for the most common\n                    <jats:italic>OCA2<\/jats:italic>\n                    pathogenic missense variant c.1327G&gt;A\/p.(Val443Ile). In conclusion, blood cell RNA analysis allows testing the potential effect of any\n                    <jats:italic>OCA2<\/jats:italic>\n                    VUS on transcription products. This should help to elucidate yet unsolved OCA2 patients and improve genetic counseling.\n                  <\/jats:p>","DOI":"10.1111\/pcmr.13123","type":"journal-article","created":{"date-parts":[[2023,8,31]],"date-time":"2023-08-31T03:59:27Z","timestamp":1693454367000},"page":"534-545","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":11,"title":["Unsuspected consequences of synonymous and missense variants in\n                    <i>OCA2<\/i>\n                    can be detected in blood cell RNA samples of patients with albinism"],"prefix":"10.1111","volume":"37","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-5788-392X","authenticated-orcid":false,"given":"Vincent","family":"Michaud","sequence":"first","affiliation":[{"name":"Rare Diseases Genetics and Metabolism, INSERM U1211, SBM Department University of Bordeaux  Bordeaux France"},{"name":"Department of Medical Genetics University Hospital of Bordeaux  Bordeaux France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-1103-2158","authenticated-orcid":false,"given":"Ang\u00e8le","family":"Sequeira","sequence":"additional","affiliation":[{"name":"Rare Diseases Genetics and Metabolism, INSERM U1211, SBM Department University of Bordeaux  Bordeaux France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Elina","family":"Mercier","sequence":"additional","affiliation":[{"name":"Rare Diseases Genetics and Metabolism, INSERM U1211, SBM Department University of Bordeaux  Bordeaux France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-4475-5099","authenticated-orcid":false,"given":"Eulalie","family":"Lasseaux","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics University Hospital of Bordeaux  Bordeaux France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-1293-6717","authenticated-orcid":false,"given":"Claudio","family":"Plaisant","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics University Hospital of Bordeaux  Bordeaux France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-6801-7106","authenticated-orcid":false,"given":"Smail","family":"Hadj\u2010Rabia","sequence":"additional","affiliation":[{"name":"Department of Dermatology, Reference Center for Genodermatoses and Rare Skin Diseases (MAGEC), INSERM U1163 University of Paris, Imagine Institute, AP\u2010HP5, Necker\u2010Enfants Malades Hospital  Paris France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-9156-5047","authenticated-orcid":false,"given":"Sandra","family":"Whalen","sequence":"additional","affiliation":[{"name":"Clinical Genetics, Centre de R\u00e9f\u00e9rence Maladies Rares Anomalies du d\u00e9veloppement et syndromes malformatifs, APHP Sorbonne University, Hospital Armand Trousseau  Paris France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-6886-0969","authenticated-orcid":false,"given":"Dominique","family":"Bonneau","sequence":"additional","affiliation":[{"name":"Department of Genetics University Hospital Angers  Angers France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-8436-6688","authenticated-orcid":false,"given":"Anne","family":"Dieux\u2010Coeslier","sequence":"additional","affiliation":[{"name":"Clinical Genetics Department, Reference Center for Developmental Anomalies CHU Lille  Lille France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-4316-916X","authenticated-orcid":false,"given":"Fanny","family":"Morice\u2010Picard","sequence":"additional","affiliation":[{"name":"Pediatric Dermatology Unit, National Center for Rare Skin Disorders University Hospital of Bordeaux  Bordeaux France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-2668-5779","authenticated-orcid":false,"given":"Juliette","family":"Coursimault","sequence":"additional","affiliation":[{"name":"Department of Genetics and Reference Center for Developmental Disorders Normandie Univ, UNIROUEN, CHU Rouen, Inserm U1245  Rouen France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-2987-2932","authenticated-orcid":false,"given":"Beno\u00eet","family":"Arveiler","sequence":"additional","affiliation":[{"name":"Rare Diseases Genetics and Metabolism, INSERM U1211, SBM Department University of Bordeaux  Bordeaux France"},{"name":"Department of Medical Genetics University Hospital of Bordeaux  Bordeaux France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-3497-0542","authenticated-orcid":false,"given":"Sophie","family":"Javerzat","sequence":"additional","affiliation":[{"name":"Rare Diseases Genetics and Metabolism, INSERM U1211, SBM Department University of Bordeaux  Bordeaux France"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2023,8,31]]},"reference":[{"key":"e_1_2_8_2_1","doi-asserted-by":"publisher","DOI":"10.1007\/s13353\u2010018\u20100444\u20107"},{"key":"e_1_2_8_3_1","doi-asserted-by":"publisher","DOI":"10.1042\/CS20160211"},{"key":"e_1_2_8_4_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41431\u2010020\u201000755\u2010z"},{"key":"e_1_2_8_5_1","doi-asserted-by":"publisher","DOI":"10.7554\/eLife.04543"},{"key":"e_1_2_8_6_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.gim.2021.09.001"},{"key":"e_1_2_8_7_1","doi-asserted-by":"publisher","DOI":"10.1016\/0378\u20101119(95)00223\u2010s"},{"key":"e_1_2_8_8_1","doi-asserted-by":"publisher","DOI":"10.1111\/pcmr.12158"},{"key":"e_1_2_8_9_1","doi-asserted-by":"publisher","DOI":"10.1126\/science.aan8433"},{"key":"e_1_2_8_10_1","doi-asserted-by":"publisher","DOI":"10.1167\/iovs.10\u20106091"},{"key":"e_1_2_8_11_1","doi-asserted-by":"publisher","DOI":"10.1038\/jid.2008.109"},{"key":"e_1_2_8_12_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.cell.2018.12.015"},{"key":"e_1_2_8_13_1","doi-asserted-by":"publisher","DOI":"10.1186\/1750\u20101172\u20107\u201044"},{"key":"e_1_2_8_14_1","doi-asserted-by":"publisher","DOI":"10.1155\/2014\/905472"},{"key":"e_1_2_8_15_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng.2892"},{"key":"e_1_2_8_16_1","doi-asserted-by":"publisher","DOI":"10.1111\/pcmr.12688"},{"key":"e_1_2_8_17_1","doi-asserted-by":"publisher","DOI":"10.1056\/NEJM199402243300803"},{"key":"e_1_2_8_18_1","doi-asserted-by":"crossref","unstructured":"Leman 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Parfait B. Vidaud D. Girodon E. Pacot L. Gac G. L. Ka C. Ferec C. Fichou Y. Quesnelle C. Aucouturier C. Muller E. Vaur D. Castera L. Boulouard F. Ricou A. Tubeuf H. Soukarieh O. Gaildrat P. \u2026Krieger S.(2022).SPiP: Splicing prediction pipeline a machine learning tool for massive detection of exonic and intronic variant effect on mRNA splicing. Preprints.https:\/\/doi.org\/10.22541\/au.164544915.57104749\/v1","DOI":"10.22541\/au.164544915.57104749\/v1"},{"key":"e_1_2_8_19_1","volume-title":"GeneReviews\u00ae","author":"Lewis R. 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