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In some patients who were clinically diagnosed with <jats:styled-content style=\"fixed-case\">OCA<\/jats:styled-content>, we have found a heterozygous pathological mutation in the coding region of <jats:italic><jats:styled-content style=\"fixed-case\">SLC<\/jats:styled-content>45A2<\/jats:italic>, the gene responsible for <jats:styled-content style=\"fixed-case\">OCA<\/jats:styled-content>4, not leading to a <jats:styled-content style=\"fixed-case\">DNA<\/jats:styled-content>\u2010based diagnosis. In this study, we evaluated pathological variants in the promoter region of <jats:italic><jats:styled-content style=\"fixed-case\">SLC<\/jats:styled-content>45A2<\/jats:italic> in these patients. The results indicated that the majority of the patients had a 4\u2010bp deletion in the said region (c.\u2010492_489del<jats:styled-content style=\"fixed-case\">AATG<\/jats:styled-content>; GenBank accession number: <jats:ext-link xmlns:xlink=\"http:\/\/www.w3.org\/1999\/xlink\" ext-link-type=\"DDBJ\/EMBL\/GenBank\" xlink:href=\"NM_016180\">NM_016180<\/jats:ext-link>; rs984225803) in the contralateral allele. These patients displayed a mild phenotype, especially regarding eye manifestations. The results of the luciferase reporter assay and electrophoretic mobility shift assay supported the pathological role of the variant. In addition, four of 220 alleles in Japanese normal control subjects also showed the deletion variant, indicating that this variant could possibly be a skin color\u2010associated variant.<\/jats:p>","DOI":"10.1111\/pcmr.12727","type":"journal-article","created":{"date-parts":[[2018,7,18]],"date-time":"2018-07-18T18:51:15Z","timestamp":1531939875000},"page":"79-84","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":13,"title":["A 4\u2010bp deletion promoter variant (rs984225803) is associated with mild <scp>OCA<\/scp>4 among Japanese patients"],"prefix":"10.1111","volume":"32","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-7366-3233","authenticated-orcid":false,"given":"Ken","family":"Okamura","sequence":"first","affiliation":[{"name":"Department of Dermatology Faculty of Medicine Yamagata University  Yamagata Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Masahiro","family":"Hayashi","sequence":"additional","affiliation":[{"name":"Department of Dermatology Faculty of Medicine Yamagata University  Yamagata Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Osamu","family":"Nakajima","sequence":"additional","affiliation":[{"name":"Faculty of Medicine Research Center for Molecular Genetics Institute for Promotion of Medical Science Research Yamagata University  Yamagata Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Michihiro","family":"Kono","sequence":"additional","affiliation":[{"name":"Department of Dermatology Nagoya University Graduate School of Medicine  Nagoya Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yuko","family":"Abe","sequence":"additional","affiliation":[{"name":"Department of Dermatology Faculty of Medicine Yamagata University  Yamagata Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yutaka","family":"Hozumi","sequence":"additional","affiliation":[{"name":"Department of Dermatology Faculty of Medicine Yamagata University  Yamagata Japan"}],"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"}]}],"member":"311","published-online":{"date-parts":[[2018,7,31]]},"reference":[{"key":"e_1_2_4_2_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jdermsci.2012.10.016"},{"key":"e_1_2_4_3_1","doi-asserted-by":"publisher","DOI":"10.1093\/genetics\/6.6.554"},{"key":"e_1_2_4_4_1","doi-asserted-by":"publisher","DOI":"10.1038\/jid.2008.211"},{"key":"e_1_2_4_5_1","doi-asserted-by":"publisher","DOI":"10.1074\/jbc.M110229200"},{"key":"e_1_2_4_6_1","doi-asserted-by":"publisher","DOI":"10.1534\/genetics.107.073387"},{"key":"e_1_2_4_7_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng584"},{"key":"e_1_2_4_8_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.20143"},{"key":"e_1_2_4_9_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.20504"},{"key":"e_1_2_4_10_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1600-0749.2006.00332.x"},{"key":"e_1_2_4_11_1","doi-asserted-by":"publisher","DOI":"10.1086\/382195"},{"key":"e_1_2_4_12_1","doi-asserted-by":"publisher","DOI":"10.1038\/labinvest.2017.9"},{"key":"e_1_2_4_13_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1346-8138.1984.tb01486.x"},{"key":"e_1_2_4_14_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1755-148X.2009.00549.x"},{"key":"e_1_2_4_15_1","doi-asserted-by":"publisher","DOI":"10.1111\/1346-8138.12170"},{"key":"e_1_2_4_16_1","doi-asserted-by":"publisher","DOI":"10.1086\/324340"},{"key":"e_1_2_4_17_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jdermsci.2015.10.014"},{"key":"e_1_2_4_18_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jdermsci.2013.12.011"},{"key":"e_1_2_4_19_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.10311"},{"key":"e_1_2_4_20_1","doi-asserted-by":"publisher","DOI":"10.2108\/zsj.19.411"},{"key":"e_1_2_4_21_1","doi-asserted-by":"publisher","DOI":"10.1093\/molbev\/msj018"},{"key":"e_1_2_4_22_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddp003"},{"key":"e_1_2_4_23_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jdermsci.2007.12.008"}],"container-title":["Pigment Cell &amp; 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