{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,30]],"date-time":"2026-09-30T23:30:31Z","timestamp":1790811031277,"version":"4.1.0"},"reference-count":32,"publisher":"Wiley","issue":"5","license":[{"start":{"date-parts":[[2019,5,29]],"date-time":"2019-05-29T00:00:00Z","timestamp":1559088000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100001809","name":"National Natural Science Foundation of China","doi-asserted-by":"publisher","award":["81371062"],"award-info":[{"award-number":["81371062"]}],"id":[{"id":"10.13039\/501100001809","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":[[2019,9]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Non\u2010syndromic oculocutaneous albinism (nsOCA) is a group of genetically heterogeneous autosomal recessive disorders with complete lack or decrease pigmentation in skin, hair, and eyes. <jats:italic>TYR<\/jats:italic>, <jats:italic>OCA2<\/jats:italic>, <jats:italic>TYRP1, SLC45A2<\/jats:italic>, <jats:italic>SLC24A5<\/jats:italic>, and <jats:italic>LRMDA<\/jats:italic> were reported to cause OCA1\u20104 and OCA6\u20107, respectively. By sequencing all the known nsOCA genes in 114 unrelated Chinese nsOCA patients combined with In silico analyses, splicing assay, and classification of variants according to the standards and guidelines of American College of Medical Genetics and Genomics, we detected seventy\u2010one different OCA\u2010causing variants separately in <jats:italic>TYR<\/jats:italic>, <jats:italic>OCA2<\/jats:italic>, <jats:italic>SLC45A2<\/jats:italic>, and <jats:italic>SLC24A5<\/jats:italic>, including thirty\u2010one novel variants (13 in <jats:italic>TYR<\/jats:italic>, 11 in <jats:italic>OCA2<\/jats:italic>, and 7 in <jats:italic>SLC45A2<\/jats:italic>). This study shows that OCA1 is the most common (75\/114) and <jats:italic>OCA2<\/jats:italic> ranks the second most common (16\/114) in Chinese. 99 patients of our cohort were caused by variants of all the known nsOCA genes. Cutaneous phenotypes of OCA1, OCA2, and OCA4 patients were shown in this study. The second OCA6 case in China was identified here. These data expand the spectrum of OCA variants as well phenotype and facilitate clinical implement of Chinese OCA patients.<\/jats:p>","DOI":"10.1111\/pcmr.12790","type":"journal-article","created":{"date-parts":[[2019,5,11]],"date-time":"2019-05-11T14:04:51Z","timestamp":1557583491000},"page":"672-686","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":24,"title":["Comprehensive analysis of spectral distribution of a large cohort of Chinese patients with non\u2010syndromic oculocutaneous albinism facilitates genetic diagnosis"],"prefix":"10.1111","volume":"32","author":[{"given":"Zilin","family":"Zhong","sequence":"first","affiliation":[{"name":"Department of Pediatrics of Shanghai Tenth People's Hospital Tongji University School of Medicine Shanghai China"},{"name":"Department of Medical Genetics Tongji University School of Medicine Shanghai China"},{"name":"Department of Regenerative Medicine Tongji University School of Medicine Shanghai China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Li","family":"Gu","sequence":"additional","affiliation":[{"name":"Department of Pediatrics of Shanghai Tenth People's Hospital Tongji University School of Medicine Shanghai China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Xiujie","family":"Zheng","sequence":"additional","affiliation":[{"name":"Department of Pediatrics of Shanghai Tenth People's Hospital Tongji University School of Medicine Shanghai China"},{"name":"Department of Medical Genetics Tongji University School of Medicine Shanghai China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nengjun","family":"Ma","sequence":"additional","affiliation":[{"name":"Department of Pediatrics of Shanghai Tenth People's Hospital Tongji University School of Medicine Shanghai China"},{"name":"Department of Medical Genetics Tongji University School of Medicine Shanghai China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Zehua","family":"Wu","sequence":"additional","affiliation":[{"name":"Department of Pediatrics of Shanghai Tenth People's Hospital Tongji University School of Medicine Shanghai China"},{"name":"Department of Medical Genetics Tongji University School of Medicine Shanghai China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Juan","family":"Duan","sequence":"additional","affiliation":[{"name":"Department of Auxiliary Reproductive Jiujiang Maternal and Child Health Hospital Jiujiang China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jun","family":"Zhang","sequence":"additional","affiliation":[{"name":"Department of Regenerative Medicine Tongji University School of Medicine Shanghai China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jianjun","family":"Chen","sequence":"additional","affiliation":[{"name":"Department of Pediatrics of Shanghai Tenth People's Hospital Tongji University School of Medicine Shanghai China"},{"name":"Department of Medical Genetics Tongji University School of Medicine Shanghai China"},{"name":"Department of Regenerative Medicine Tongji University School of Medicine Shanghai China"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2019,5,29]]},"reference":[{"key":"e_1_2_8_2_1","doi-asserted-by":"publisher","DOI":"10.1159\/000468538"},{"key":"e_1_2_8_3_1","doi-asserted-by":"publisher","DOI":"10.1111\/pcmr.12425"},{"issue":"6","key":"e_1_2_8_4_1","first-page":"1145","article-title":"Mutation in and lack of expression of tyrosinase\u2010related protein\u20101 (TRP\u20101) in melanocytes from an individual with brown oculocutaneous albinism: A new subtype of albinism classified as \"OCA3\"","volume":"58","author":"Boissy R. 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