{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,1,29]],"date-time":"2026-01-29T15:37:57Z","timestamp":1769701077051,"version":"3.49.0"},"reference-count":46,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2026,1,11]],"date-time":"2026-01-11T00:00:00Z","timestamp":1768089600000},"content-version":"vor","delay-in-days":10,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"},{"start":{"date-parts":[[2026,1,1]],"date-time":"2026-01-01T00:00:00Z","timestamp":1767225600000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/doi.wiley.com\/10.1002\/tdm_license_1.1"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Pigment Cell Melanoma Res"],"published-print":{"date-parts":[[2026,1]]},"abstract":"<jats:title>ABSTRACT<\/jats:title>\n                  <jats:p>\n                    Oculocutaneous albinism type 1 (OCA1) caused by pathogenic variants of the\n                    <jats:italic>TYR<\/jats:italic>\n                    gene is an autosomal recessive disorder of pigmentation characterized by reduced biosynthesis of melanin pigment in skin, hair, and eyes. We had the opportunity to examine five East Cameroon Baka rainforest hunter\u2010gatherers (historically called \u201cPygmies\u201d) with albinism and belonging to three different families. Screening of known albinism genes revealed a homozygous missense variant in the\n                    <jats:italic>TYR<\/jats:italic>\n                    gene, NM_000372.5: c.1109T&gt;C; p.Met370Thr. In addition, one patient was also hemizygous for a variant in\n                    <jats:italic>GPR143<\/jats:italic>\n                    , the gene involved in ocular albinism (OA1). Another patient was also heterozygous for the common African and Afro\u2010American 2.7\u2010kb deletion in the\n                    <jats:italic>OCA2<\/jats:italic>\n                    gene indicating admixture of one parent with neighboring Nzim\u00e9 Bantu\u2010speaking farmers. This is the first report of the occurrence of OCA1 in African rainforest hunter\u2010gatherers.\n                  <\/jats:p>","DOI":"10.1111\/pcmr.70073","type":"journal-article","created":{"date-parts":[[2026,1,12]],"date-time":"2026-01-12T04:16:59Z","timestamp":1768191419000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["First Report of Oculocutaneous Albinism Type I Among Baka Pygmies From Cameroon"],"prefix":"10.1111","volume":"39","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-5448-9698","authenticated-orcid":false,"given":"Alain","family":"Froment","sequence":"first","affiliation":[{"name":"UMR 208 PALOC IRD\u2010CNRS\u2010MNHN\u2010Universit\u00e9 Paris Cit\u00e9 Museum National d'Histoire Naturelle  Paris France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-6828-268X","authenticated-orcid":false,"given":"Paul","family":"Verdu","sequence":"additional","affiliation":[{"name":"UMR 7206 Eco\u2010Anthropologie, CNRS MNHN\u2010Universit\u00e9 Paris Cit\u00e9, Mus\u00e9e de l'Homme  Paris France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Claudio","family":"Plaisant","sequence":"additional","affiliation":[{"name":"CHU de Bordeaux, Laboratoire de G\u00e9n\u00e9tique Mol\u00e9culaire, Service de G\u00e9n\u00e9tique M\u00e9dical  Bordeaux France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Eulalie","family":"Lasseaux","sequence":"additional","affiliation":[{"name":"CHU de Bordeaux, Laboratoire de G\u00e9n\u00e9tique Mol\u00e9culaire, Service de G\u00e9n\u00e9tique M\u00e9dical  Bordeaux France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-5619-6004","authenticated-orcid":false,"given":"Robert","family":"Aquaron","sequence":"additional","affiliation":[{"name":"Campus Sant\u00e9 Timone Aix\u2010Marseille Universit\u00e9  Marseille France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-2987-2932","authenticated-orcid":false,"given":"Benoit","family":"Arveiler","sequence":"additional","affiliation":[{"name":"CHU de Bordeaux, Laboratoire de G\u00e9n\u00e9tique Mol\u00e9culaire, Service de G\u00e9n\u00e9tique M\u00e9dical  Bordeaux France"},{"name":"Universit\u00e9 de Bordeaux, Maladies Rares: G\u00e9n\u00e9tique et M\u00e9tabolisme (MRGM), U1211 INSERM  Bordeaux France"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2026,1,11]]},"reference":[{"key":"e_1_2_12_2_1","first-page":"1","article-title":"What We Can Learn From the Distribution of the 2.7 kb 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 and Clinical Research"},{"key":"e_1_2_12_3_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jdermsci.2006.01.007"},{"key":"e_1_2_12_4_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41431-020-00789-3"},{"key":"e_1_2_12_5_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajpa.21512"},{"key":"e_1_2_12_6_1","first-page":"17","article-title":"Can Life History Trade\u2010Offs Explain the Evolution of Short Stature in Human Pygmies? A Response to Migliano Et\u00a0al. (2007)","volume":"82","author":"Becker N. 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