{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,16]],"date-time":"2026-10-16T03:09:51Z","timestamp":1792120191160,"version":"4.4.0"},"reference-count":67,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2013,10,17]],"date-time":"2013-10-17T00:00:00Z","timestamp":1381968000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Pigment Cell Melanoma Res"],"published-print":{"date-parts":[[2014,1]]},"abstract":"<jats:title>Summary<\/jats:title><jats:p>Albinism is a rare genetic condition globally characterized by a number of specific deficits in the visual system, resulting in poor vision, in association with a variable hypopigmentation phenotype. This lack or reduction in pigment might affect the eyes, skin, and hair (oculocutaneous albinism, <jats:styled-content style=\"fixed-case\">OCA<\/jats:styled-content>), or only the eyes (ocular albinism, <jats:styled-content style=\"fixed-case\">OA<\/jats:styled-content>). In addition, there are several syndromic forms of albinism (e.g. Hermansky\u2013Pudlak and Chediak\u2013Higashi syndromes, <jats:styled-content style=\"fixed-case\">HPS<\/jats:styled-content> and <jats:styled-content style=\"fixed-case\">CHS<\/jats:styled-content>, respectively) in which the described hypopigmented and visual phenotypes coexist with more severe pathological alterations. Recently, a locus has been mapped to the 4q24 human chromosomal region and thus represents an additional genetic cause of <jats:styled-content style=\"fixed-case\">OCA<\/jats:styled-content>, termed <jats:styled-content style=\"fixed-case\">OCA<\/jats:styled-content>5, while the gene is eventually identified. In addition, two new genes have been identified as causing <jats:styled-content style=\"fixed-case\">OCA<\/jats:styled-content> when mutated: <jats:italic><jats:styled-content style=\"fixed-case\">SLC<\/jats:styled-content>24A5<\/jats:italic> and <jats:italic>C10orf11<\/jats:italic>, and hence designated as <jats:styled-content style=\"fixed-case\">OCA<\/jats:styled-content>6 and <jats:styled-content style=\"fixed-case\">OCA<\/jats:styled-content>7, respectively. This consensus review, involving all laboratories that have reported these new genes, aims to update and agree upon the current gene nomenclature and types of albinism, while providing additional insights from the function of these new genes in pigment cells.<\/jats:p>","DOI":"10.1111\/pcmr.12167","type":"journal-article","created":{"date-parts":[[2013,9,25]],"date-time":"2013-09-25T09:11:24Z","timestamp":1380100284000},"page":"11-18","source":"Crossref","is-referenced-by-count":197,"title":["Increasing the complexity: new genes and new types of albinism"],"prefix":"10.1111","volume":"27","author":[{"given":"Llu\u00eds","family":"Montoliu","sequence":"first","affiliation":[{"name":"Department of Molecular and Cellular Biology National Centre for Biotechnology (CNB\u2010CSIC) Campus de Cantoblanco Madrid Spain"},{"name":"CIBERER, ISCIII Madrid Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Karen","family":"Gr\u00f8nskov","sequence":"additional","affiliation":[{"name":"Applied Human Molecular Genetics Kennedy Center Copenhagen University Hospital Copenhagen Denmark"},{"name":"Department of Cellular and Molecular Medicine University of Copenhagen Copenhagen Denmark"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ai\u2010Hua","family":"Wei","sequence":"additional","affiliation":[{"name":"Department of Dermatology Beijing Tongren Affiliated Hospital of Capital Medical University Beijing China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"M\u00f3nica","family":"Mart\u00ednez\u2010Garc\u00eda","sequence":"additional","affiliation":[{"name":"Department of Molecular and Cellular Biology National Centre for Biotechnology (CNB\u2010CSIC) Campus de Cantoblanco Madrid Spain"},{"name":"CIBERER, ISCIII Madrid Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Almudena","family":"Fern\u00e1ndez","sequence":"additional","affiliation":[{"name":"Department of Molecular and Cellular Biology National Centre for Biotechnology (CNB\u2010CSIC) Campus de Cantoblanco Madrid Spain"},{"name":"CIBERER, ISCIII Madrid Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Beno\u00eet","family":"Arveiler","sequence":"additional","affiliation":[{"name":"Maladies Rares: G\u00e9n\u00e9tique et M\u00e9tabolisme (MRGM) EA4576 Univ. Bordeaux Bordeaux France"},{"name":"Service de G\u00e9n\u00e9tique M\u00e9dicale CHU de Bordeaux Bordeaux France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Fanny","family":"Morice\u2010Picard","sequence":"additional","affiliation":[{"name":"Maladies Rares: G\u00e9n\u00e9tique et M\u00e9tabolisme (MRGM) EA4576 Univ. Bordeaux Bordeaux France"},{"name":"Service de G\u00e9n\u00e9tique M\u00e9dicale CHU de Bordeaux Bordeaux France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Saima","family":"Riazuddin","sequence":"additional","affiliation":[{"name":"Divisions of Pediatric Ophthalmology and Otolaryngology Cincinnati Children's Hospital Research Foundation Cincinnati OH USA"},{"name":"Departments of Ophthalmology and Otolaryngology University of Cincinnati Cincinnati OH USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tamio","family":"Suzuki","sequence":"additional","affiliation":[{"name":"Department of Dermatology Faculty of Medicine Yamagata University Yamagata Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Zubair M.","family":"Ahmed","sequence":"additional","affiliation":[{"name":"Divisions of Pediatric Ophthalmology and Otolaryngology Cincinnati Children's Hospital Research Foundation Cincinnati OH USA"},{"name":"Departments of Ophthalmology and Otolaryngology University of Cincinnati Cincinnati OH USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Thomas","family":"Rosenberg","sequence":"additional","affiliation":[{"name":"National Eye Clinic for the Visually Impaired Kennedy Center Copenhagen University Hospital Copenhagen Denmark"},{"name":"Institute of Clinical Medicine Faculty of Health University of Copenhagen Copenhagen Denmark"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Wei","family":"Li","sequence":"additional","affiliation":[{"name":"State Key Laboratory of Molecular Developmental Biology Institute of Genetics and Developmental Biology Chinese Academy of Sciences Beijing China"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2013,10,17]]},"reference":[{"key":"e_1_2_7_2_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng576"},{"key":"e_1_2_7_3_1","doi-asserted-by":"publisher","DOI":"10.1007\/s10038-007-0181-y"},{"key":"e_1_2_7_4_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00018-008-8019-0"},{"key":"e_1_2_7_5_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.det.2010.08.015"},{"key":"e_1_2_7_6_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2011.05.009"},{"key":"e_1_2_7_7_1","doi-asserted-by":"publisher","DOI":"10.1126\/science.280.5362.431"},{"key":"e_1_2_7_8_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF02080368"},{"key":"e_1_2_7_9_1","doi-asserted-by":"publisher","DOI":"10.1034\/j.1600-0749.2002.02012.x"},{"key":"e_1_2_7_10_1","doi-asserted-by":"publisher","DOI":"10.1167\/iovs.10-6091"},{"key":"e_1_2_7_11_1","doi-asserted-by":"publisher","DOI":"10.1074\/jbc.M311311200"},{"key":"e_1_2_7_12_1","doi-asserted-by":"publisher","DOI":"10.1136\/bjo.2006.091702"},{"key":"e_1_2_7_13_1","doi-asserted-by":"publisher","DOI":"10.1017\/S095252380118209X"},{"key":"e_1_2_7_14_1","doi-asserted-by":"publisher","DOI":"10.1186\/1750-1172-2-43"},{"key":"e_1_2_7_15_1","doi-asserted-by":"publisher","DOI":"10.1167\/iovs.08-2639"},{"key":"e_1_2_7_16_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2013.01.006"},{"key":"e_1_2_7_17_1","doi-asserted-by":"publisher","DOI":"10.1034\/j.1600-0749.2002.02074.x"},{"key":"e_1_2_7_18_1","doi-asserted-by":"publisher","DOI":"10.1146\/annurev.genom.9.081307.164303"},{"key":"e_1_2_7_19_1","doi-asserted-by":"publisher","DOI":"10.1167\/iovs.07-0791"},{"key":"e_1_2_7_20_1","doi-asserted-by":"publisher","DOI":"10.1038\/jid.2008.109"},{"key":"e_1_2_7_21_1","doi-asserted-by":"publisher","DOI":"10.1086\/382195"},{"key":"e_1_2_7_22_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1600-0749.2006.00292.x"},{"key":"e_1_2_7_23_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1468-3083.2011.04278.x"},{"key":"e_1_2_7_24_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.0022-202X.2005.23884.x"},{"key":"e_1_2_7_25_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1460-9568.1994.tb00311.x"},{"key":"e_1_2_7_26_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0165-3806(96)00211-8"},{"key":"e_1_2_7_27_1","doi-asserted-by":"publisher","DOI":"10.1034\/j.1600-0749.2000.130403.x"},{"key":"e_1_2_7_28_1","doi-asserted-by":"publisher","DOI":"10.1111\/cge.12019"},{"key":"e_1_2_7_29_1","doi-asserted-by":"publisher","DOI":"10.1002\/9780470987100.ch31"},{"key":"e_1_2_7_30_1","first-page":"5587","volume-title":"The Metabolic and Molecular Bases of Inherited Disease","author":"King R.A.","year":"2001"},{"key":"e_1_2_7_31_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00439-003-0998-1"},{"key":"e_1_2_7_32_1","doi-asserted-by":"publisher","DOI":"10.1126\/science.1116238"},{"key":"e_1_2_7_33_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1471-4159.2006.03657.x"},{"key":"e_1_2_7_34_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng1229"},{"key":"e_1_2_7_35_1","doi-asserted-by":"publisher","DOI":"10.1002\/pd.1439"},{"key":"e_1_2_7_36_1","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pbio.0060236"},{"key":"e_1_2_7_37_1","doi-asserted-by":"publisher","DOI":"10.1074\/jbc.M301294200"},{"key":"e_1_2_7_38_1","doi-asserted-by":"publisher","DOI":"10.1111\/1346-8138.12170"},{"key":"e_1_2_7_39_1","doi-asserted-by":"publisher","DOI":"10.1086\/499338"},{"key":"e_1_2_7_40_1","doi-asserted-by":"publisher","DOI":"10.1038\/jid.2013.356"},{"key":"e_1_2_7_41_1","doi-asserted-by":"publisher","DOI":"10.1086\/324340"},{"key":"e_1_2_7_42_1","doi-asserted-by":"publisher","DOI":"10.1034\/j.1600-0749.2000.130503.x"},{"key":"e_1_2_7_43_1","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1098-1004(1999)13:2<99::AID-HUMU2>3.0.CO;2-C"},{"key":"e_1_2_7_44_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng1196-300"},{"key":"e_1_2_7_45_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddn241"},{"key":"e_1_2_7_46_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1755-148X.2008.00496.x"},{"key":"e_1_2_7_47_1","doi-asserted-by":"publisher","DOI":"10.1586\/edm.09.53"},{"key":"e_1_2_7_48_1","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.91.25.12071"},{"key":"e_1_2_7_49_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.10311"},{"key":"e_1_2_7_50_1","doi-asserted-by":"publisher","DOI":"10.1034\/j.1600-0749.2001.140603.x"},{"key":"e_1_2_7_51_1","doi-asserted-by":"crossref","first-page":"5","DOI":"10.5070\/D30FB7F671","article-title":"Syndromic albinism: a review of genetics and phenotypes","volume":"9","author":"Scheinfeld N.S.","year":"2003","journal-title":"Dermatol. Online J."},{"key":"e_1_2_7_52_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1600-0749.2005.00240.x"},{"key":"e_1_2_7_53_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1755-148X.2011.00898.x"},{"key":"e_1_2_7_54_1","first-page":"1320","article-title":"Frequent intragenic deletion of the P gene in Tanzanian patients with type II oculocutaneous albinism (OCA2)","volume":"56","author":"Spritz R.A.","year":"1995","journal-title":"Am. J. Hum. Genet."},{"key":"e_1_2_7_55_1","doi-asserted-by":"publisher","DOI":"10.1074\/jbc.M402513200"},{"key":"e_1_2_7_56_1","doi-asserted-by":"publisher","DOI":"10.1097\/OPX.0b013e3181a5254c"},{"key":"e_1_2_7_57_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jdermsci.2007.12.008"},{"key":"e_1_2_7_58_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng835"},{"key":"e_1_2_7_59_1","doi-asserted-by":"publisher","DOI":"10.1034\/j.1600-0749.2002.02007.x"},{"key":"e_1_2_7_60_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1755-148X.2009.00558.x"},{"key":"e_1_2_7_61_1","doi-asserted-by":"publisher","DOI":"10.1354\/vp.45-2-264"},{"key":"e_1_2_7_62_1","doi-asserted-by":"publisher","DOI":"10.1111\/pcmr.12051"},{"key":"e_1_2_7_63_1","doi-asserted-by":"publisher","DOI":"10.1038\/jid.2009.339"},{"key":"e_1_2_7_64_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jdermsci.2011.02.009"},{"key":"e_1_2_7_65_1","doi-asserted-by":"publisher","DOI":"10.1111\/1346-8138.12025"},{"key":"e_1_2_7_66_1","doi-asserted-by":"publisher","DOI":"10.1038\/jid.2013.49"},{"key":"e_1_2_7_67_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng1087"},{"key":"e_1_2_7_68_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1600-0749.2007.00377.x"}],"container-title":["Pigment Cell &amp; Melanoma Research"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1111%2Fpcmr.12167","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/pcmr.12167","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,9,24]],"date-time":"2023-09-24T10:09:29Z","timestamp":1695550169000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1111\/pcmr.12167"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2013,10,17]]},"references-count":67,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2014,1]]}},"alternative-id":["10.1111\/pcmr.12167"],"URL":"https:\/\/doi.org\/10.1111\/pcmr.12167","archive":["Portico"],"relation":{},"ISSN":["1755-1471","1755-148X"],"issn-type":[{"value":"1755-1471","type":"print"},{"value":"1755-148X","type":"electronic"}],"subject":[],"published":{"date-parts":[[2013,10,17]]}}}