{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,3]],"date-time":"2026-06-03T22:16:17Z","timestamp":1780524977228,"version":"3.54.1"},"reference-count":23,"publisher":"Wiley","issue":"6","license":[{"start":{"date-parts":[[2024,5,9]],"date-time":"2024-05-09T00:00:00Z","timestamp":1715212800000},"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":[[2024,11]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>\n                    Albinism is a phenotypically and genetically heterogeneous condition characterized by a variable degree of hypopigmentation and by ocular features leading to reduced visual acuity. Whereas numerous genotypic studies have been conducted throughout the world, very little is known about the genotypic spectrum of albinism in Africa and especially in sub\u2010Saharan Western Africa. Here we report the analysis of all known albinism genes in a series a 23 patients originating from Mali. Four were diagnosed with OCA 1 (oculocutaneous albinism type 1), 17 with OCA 2, and two with OCA 4.\n                    <jats:italic>OCA2<\/jats:italic>\n                    variant NM_000275.3:c.819_822delinsGGTC was most frequently encountered. Four novel variants were identified (two in\n                    <jats:italic>TYR<\/jats:italic>\n                    , two in\n                    <jats:italic>OCA2<\/jats:italic>\n                    ). A deep intronic variant was found to alter splicing of the\n                    <jats:italic>OCA2<\/jats:italic>\n                    RNA by inclusion of a pseudo exon. Of note, the\n                    <jats:italic>OCA2<\/jats:italic>\n                    exon 7 deletion commonly found in eastern, central, and southern Africa was absent from this series. African patients with OCA 1 and OCA 4 had only been reported twice and once, respectively, in previous publications. This study constitutes the first report of the genotypic spectrum of albinism in a western sub\u2010Saharan country.\n                  <\/jats:p>","DOI":"10.1111\/pcmr.13175","type":"journal-article","created":{"date-parts":[[2024,5,9]],"date-time":"2024-05-09T03:19:37Z","timestamp":1715224777000},"page":"752-761","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":11,"title":["Genotypic spectrum of albinism in Mali"],"prefix":"10.1111","volume":"37","author":[{"ORCID":"https:\/\/orcid.org\/0009-0009-8884-7954","authenticated-orcid":false,"given":"Modibo","family":"Diallo","sequence":"first","affiliation":[{"name":"Laboratoire Maladies Rares, G\u00e9n\u00e9tique et M\u00e9tabolisme Bordeaux University INSERM U1211  Bordeaux France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0009-0003-3481-0968","authenticated-orcid":false,"given":"Ousmane","family":"Sylla","sequence":"additional","affiliation":[{"name":"Infirmerie H\u00f4pital Militaire  Bamako Mali"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-6675-6842","authenticated-orcid":false,"given":"Mohamed Kole","family":"Sidib\u00e9","sequence":"additional","affiliation":[{"name":"Infirmerie H\u00f4pital Militaire  Bamako Mali"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-1293-6717","authenticated-orcid":false,"given":"Claudio","family":"Plaisant","sequence":"additional","affiliation":[{"name":"Service de G\u00e9n\u00e9tique M\u00e9dicale, CHU  Bordeaux France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0009-0003-8663-2710","authenticated-orcid":false,"given":"Elina","family":"Mercier","sequence":"additional","affiliation":[{"name":"Laboratoire Maladies Rares, G\u00e9n\u00e9tique et M\u00e9tabolisme Bordeaux University INSERM U1211  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":"Laboratoire Maladies Rares, G\u00e9n\u00e9tique et M\u00e9tabolisme Bordeaux University INSERM U1211  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":"Laboratoire Maladies Rares, G\u00e9n\u00e9tique et M\u00e9tabolisme Bordeaux University INSERM U1211  Bordeaux France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0009-0007-9882-8066","authenticated-orcid":false,"given":"Abdelaziz","family":"Hadid","sequence":"additional","affiliation":[{"name":"Laboratoire d'Analyses PA&amp;KA  Bamako Mali"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-4475-5099","authenticated-orcid":false,"given":"Eulalie","family":"Lasseaux","sequence":"additional","affiliation":[{"name":"Service de G\u00e9n\u00e9tique M\u00e9dicale, CHU  Bordeaux France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-5788-392X","authenticated-orcid":false,"given":"Vincent","family":"Michaud","sequence":"additional","affiliation":[{"name":"Laboratoire Maladies Rares, G\u00e9n\u00e9tique et M\u00e9tabolisme Bordeaux University INSERM U1211  Bordeaux France"},{"name":"Service de G\u00e9n\u00e9tique M\u00e9dicale, CHU  Bordeaux France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-2987-2932","authenticated-orcid":false,"given":"Benoit","family":"Arveiler","sequence":"additional","affiliation":[{"name":"Laboratoire Maladies Rares, G\u00e9n\u00e9tique et M\u00e9tabolisme Bordeaux University INSERM U1211  Bordeaux France"},{"name":"Service de G\u00e9n\u00e9tique M\u00e9dicale, CHU  Bordeaux France"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2024,5,9]]},"reference":[{"key":"e_1_2_10_2_1","first-page":"5","article-title":"What can we learn from the distribution of the 2.7kb deletion mutation of the OCA2 gene in oculocutaneous albinism type 2 (OCA2) in Cameroon and in sub\u2010Saharan countries?","volume":"5","author":"Aquaron R.","year":"2019","journal-title":"JSM Dermatology Clinical Research"},{"key":"e_1_2_10_3_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ejmg.2022.104594"},{"key":"e_1_2_10_4_1","doi-asserted-by":"publisher","DOI":"10.1007\/s10038-007-0181-y"},{"key":"e_1_2_10_5_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jdermsci.2006.01.007"},{"key":"e_1_2_10_6_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.preteyeres.2022.101091"},{"key":"e_1_2_10_7_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41431-020-00789-3"},{"key":"e_1_2_10_8_1","doi-asserted-by":"publisher","DOI":"10.7554\/eLife.04543"},{"key":"e_1_2_10_9_1","doi-asserted-by":"publisher","DOI":"10.1186\/s40246-023-00451-1"},{"key":"e_1_2_10_10_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng0694-176"},{"key":"e_1_2_10_11_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00439-003-0998-1"},{"key":"e_1_2_10_12_1","doi-asserted-by":"publisher","DOI":"10.1167\/iovs.64.10.14"},{"issue":"11","key":"e_1_2_10_13_1","article-title":"Oculocutaneous albinism in southern Africa: Historical background, genetic, clinical and psychosocial issues","volume":"14","author":"Kromberg J. G. R.","year":"2022","journal-title":"African Journal of Disability"},{"key":"e_1_2_10_14_1","doi-asserted-by":"publisher","DOI":"10.1016\/B978-0-12-813944-8.00018-4"},{"key":"e_1_2_10_15_1","doi-asserted-by":"publisher","DOI":"10.1111\/pcmr.12688"},{"key":"e_1_2_10_16_1","doi-asserted-by":"publisher","DOI":"10.1091\/mbc.E20-03-0200"},{"issue":"11","key":"e_1_2_10_17_1","first-page":"2047","article-title":"Mutations of the P Gene in Oculocutaneous Albinism, Ocular Albinism, and Prader\u2010Willi Syndrome Plus Albinism","volume":"3","author":"Lee S. T.","year":"1994","journal-title":"Human Molecular Genetics"},{"key":"e_1_2_10_18_1","doi-asserted-by":"publisher","DOI":"10.1086\/301603"},{"key":"e_1_2_10_19_1","doi-asserted-by":"publisher","DOI":"10.1111\/pcmr.12651"},{"key":"e_1_2_10_20_1","doi-asserted-by":"publisher","DOI":"10.1111\/pcmr.13123"},{"key":"e_1_2_10_21_1","doi-asserted-by":"publisher","DOI":"10.3390\/genes13122198"},{"key":"e_1_2_10_22_1","article-title":"A novel non\u2010sense mutation in a Senegalese patient with Hermansky\u2010Pudlak type 1Syndrome","volume":"13","author":"Ndiaye R.","year":"2019","journal-title":"Journal of Molecular and Genetic Medicine"},{"key":"e_1_2_10_23_1","doi-asserted-by":"publisher","DOI":"10.1038\/gim.2015.30"},{"key":"e_1_2_10_24_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ophtha.2011.01.028"}],"container-title":["Pigment Cell &amp; Melanoma Research"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/pcmr.13175","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2024,10,28]],"date-time":"2024-10-28T01:24:50Z","timestamp":1730078690000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1111\/pcmr.13175"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2024,5,9]]},"references-count":23,"journal-issue":{"issue":"6","published-print":{"date-parts":[[2024,11]]}},"alternative-id":["10.1111\/pcmr.13175"],"URL":"https:\/\/doi.org\/10.1111\/pcmr.13175","archive":["Portico"],"relation":{"has-preprint":[{"id-type":"doi","id":"10.1101\/2024.03.05.24303017","asserted-by":"object"}]},"ISSN":["1755-1471","1755-148X"],"issn-type":[{"value":"1755-1471","type":"print"},{"value":"1755-148X","type":"electronic"}],"subject":[],"published":{"date-parts":[[2024,5,9]]},"assertion":[{"value":"2024-03-13","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2024-05-01","order":2,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2024-05-09","order":3,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}