{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,1]],"date-time":"2026-09-01T23:50:27Z","timestamp":1788306627368,"version":"build-2803163510"},"reference-count":22,"publisher":"Wiley","issue":"6","license":[{"start":{"date-parts":[[2019,6,9]],"date-time":"2019-06-09T00:00:00Z","timestamp":1560038400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/501100001691","name":"Japan Society for the Promotion of Science","doi-asserted-by":"publisher","award":["KAKENHI \/ JP18K16046"],"award-info":[{"award-number":["KAKENHI \/ JP18K16046"]}],"id":[{"id":"10.13039\/501100001691","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100004322","name":"Shiseido Group","doi-asserted-by":"publisher","award":["the Japanese Dermatological Association"],"award-info":[{"award-number":["the Japanese Dermatological Association"]}],"id":[{"id":"10.13039\/501100004322","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100009647","name":"Ministry of Health","doi-asserted-by":"publisher","award":["H29-029"],"award-info":[{"award-number":["H29-029"]}],"id":[{"id":"10.13039\/100009647","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100008040","name":"Kao Corporation","doi-asserted-by":"publisher","award":["Kao Melanin Workshop"],"award-info":[{"award-number":["Kao Melanin Workshop"]}],"id":[{"id":"10.13039\/501100008040","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Pigment Cell Melanoma Res"],"published-print":{"date-parts":[[2019,11]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Albinism, which is commonly inherited as an autosomal recessive trait, is characterized by a reduction or absence of melanin in the eyes, skin, and hair. To date, more than 20 causal genes for albinism have been identified; thus, the accurate diagnosis of albinism requires next\u2010generation sequencing (NGS). In this study, we analyzed 46 patients who tested negative for oculocutaneous albinism (OCA)1\u20134 and Hermansky\u2010Pudlak syndrome (HPS)1 based on conventional analysis, in addition to 28 new Japanese patients, using NGS\u2010based targeted resequencing. We identified a genetic background for albinism in 18 of the 46 patients (39%), who were previously tested negative according to the conventional analysis. In addition, we unveiled a genetic predisposition toward albinism in 23 of the 28 new patients (82%). We identified six patients with rare subtypes of albinism, including HPS3, HPS4, and HPS6, and found 12 novel pathological mutations in albinism\u2010related genes. Furthermore, most patients who were not diagnosed with albinism by the NGS analysis showed mild manifestations of albinism without apparent eye symptoms and harbored only one heterozygous mutation, occasionally in combination with skin\u2010color associated gene variants.<\/jats:p>","DOI":"10.1111\/pcmr.12800","type":"journal-article","created":{"date-parts":[[2019,5,29]],"date-time":"2019-05-29T13:19:13Z","timestamp":1559135953000},"page":"848-853","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":32,"title":["NGS\u2010based targeted resequencing identified rare subtypes of albinism: Providing accurate molecular diagnosis for Japanese patients with albinism"],"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"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-1674-4093","authenticated-orcid":false,"given":"Masahiro","family":"Hayashi","sequence":"additional","affiliation":[{"name":"Department of Dermatology, Faculty of Medicine Yamagata University Yamagata 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":"Michihiro","family":"Kono","sequence":"additional","affiliation":[{"name":"Department of Dermatology Nagoya University Graduate School of Medicine Nagoya Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kimiko","family":"Nakajima","sequence":"additional","affiliation":[{"name":"Department of Dermatology, Kochi Medical School Kochi University Kochi Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yumi","family":"Aoyama","sequence":"additional","affiliation":[{"name":"Department of Dermatology Kawasaki Medical School Kurashiki Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Chikako","family":"Nishigori","sequence":"additional","affiliation":[{"name":"Division of Dermatology, Department of Internal Related Kobe University Graduate School of Medicine Kobe Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hiroshi","family":"Ishimoto","sequence":"additional","affiliation":[{"name":"Department of Respiratory Medicine Nagasaki University Graduate School of Biomedical Sciences Nagasaki Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yuji","family":"Ishimatsu","sequence":"additional","affiliation":[{"name":"Department of Nursing Nagasaki University Graduate School of Biomedical Sciences Nagasaki Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mika","family":"Nakajima","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Hakodate Central General Hospital Hakodate 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":[[2019,6,9]]},"reference":[{"key":"e_1_2_8_2_1","doi-asserted-by":"publisher","DOI":"10.1111\/1346-8138.12386"},{"key":"e_1_2_8_3_1","doi-asserted-by":"publisher","DOI":"10.1016\/S1096-7192(02)00044-6"},{"key":"e_1_2_8_4_1","first-page":"617","article-title":"Pathogenesis of pulmonary fibrosis: Platelet\u2010derived growth factor precedes structural alterations in the Hermansky\u2010Pudlak syndrome","volume":"123","author":"Harmon K. R.","year":"1994","journal-title":"Journal of Laboratory and Clinical Medicine"},{"key":"e_1_2_8_5_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.2008.065961"},{"key":"e_1_2_8_6_1","doi-asserted-by":"publisher","DOI":"10.1086\/382195"},{"key":"e_1_2_8_7_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.0022-202X.2005.23884.x"},{"key":"e_1_2_8_8_1","doi-asserted-by":"publisher","DOI":"10.1111\/pcmr.12608"},{"key":"e_1_2_8_9_1","doi-asserted-by":"publisher","DOI":"10.1038\/jhg.2016.56"},{"key":"e_1_2_8_10_1","doi-asserted-by":"publisher","DOI":"10.1111\/pcmr.12543"},{"key":"e_1_2_8_11_1","doi-asserted-by":"publisher","DOI":"10.1111\/pcmr.12662"},{"key":"e_1_2_8_12_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jdermsci.2015.10.014"},{"key":"e_1_2_8_13_1","doi-asserted-by":"publisher","DOI":"10.1111\/pcmr.12727"},{"key":"e_1_2_8_14_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jdermsci.2013.12.011"},{"key":"e_1_2_8_15_1","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pone.0173682"},{"key":"e_1_2_8_16_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.coi.2016.09.008"},{"key":"e_1_2_8_17_1","doi-asserted-by":"publisher","DOI":"10.1046\/j.1523-1747.2003.12127.x"},{"key":"e_1_2_8_18_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jdermsci.2007.12.008"},{"key":"e_1_2_8_19_1","doi-asserted-by":"publisher","DOI":"10.1111\/1523-1747.ep12285621"},{"key":"e_1_2_8_20_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jid.2018.10.033"},{"key":"e_1_2_8_21_1","doi-asserted-by":"publisher","DOI":"10.1111\/1346-8138.12025"},{"key":"e_1_2_8_22_1","doi-asserted-by":"publisher","DOI":"10.1111\/pcmr.12534"},{"key":"e_1_2_8_23_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jdermsci.2011.09.005"}],"container-title":["Pigment Cell &amp; Melanoma Research"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1111%2Fpcmr.12800","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/pcmr.12800","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full-xml\/10.1111\/pcmr.12800","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/pcmr.12800","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,9,9]],"date-time":"2023-09-09T14:32:34Z","timestamp":1694269954000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1111\/pcmr.12800"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2019,6,9]]},"references-count":22,"journal-issue":{"issue":"6","published-print":{"date-parts":[[2019,11]]}},"alternative-id":["10.1111\/pcmr.12800"],"URL":"https:\/\/doi.org\/10.1111\/pcmr.12800","archive":["Portico"],"relation":{},"ISSN":["1755-1471","1755-148X"],"issn-type":[{"value":"1755-1471","type":"print"},{"value":"1755-148X","type":"electronic"}],"subject":[],"published":{"date-parts":[[2019,6,9]]},"assertion":[{"value":"2019-03-17","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2019-05-17","order":1,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2019-06-09","order":2,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}