{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,4,28]],"date-time":"2026-04-28T04:39:45Z","timestamp":1777351185355,"version":"3.51.4"},"reference-count":11,"publisher":"Wiley","issue":"11","license":[{"start":{"date-parts":[[2019,9,4]],"date-time":"2019-09-04T00:00:00Z","timestamp":1567555200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/501100001809","name":"National Natural Science Foundation of China","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100001809","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["The Journal of Dermatology"],"published-print":{"date-parts":[[2019,11]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Oculocutaneous albinism (<jats:styled-content style=\"fixed-case\">OCA<\/jats:styled-content>) is a rare and heterogeneous disorder characterized by hypopigmentation of the skin, hair and eyes. Thirty <jats:styled-content style=\"fixed-case\">OCA<\/jats:styled-content> type 6 (<jats:styled-content style=\"fixed-case\">OCA<\/jats:styled-content>6) patients with 24 mutations in <jats:italic><jats:styled-content style=\"fixed-case\">SLC<\/jats:styled-content>24A5<\/jats:italic> have been reported across various populations; however, only one patient has been identified in a Chinese population. This study identifies two novel <jats:italic><jats:styled-content style=\"fixed-case\">SLC<\/jats:styled-content>24A5<\/jats:italic> frame\u2010shift variants in two unrelated Chinese patients and both are predicted to be pathogenic by American College of Medical Genetics guidelines. The genotypes and phenotypes of all three Chinese <jats:styled-content style=\"fixed-case\">OCA<\/jats:styled-content>6 patients are unique compared with those identified in other populations. All of the mutations identified to date in Chinese <jats:styled-content style=\"fixed-case\">OCA<\/jats:styled-content>6 patients are predicted to be non\u2010functional, a finding that is useful in guiding genetic diagnosis and counseling for <jats:styled-content style=\"fixed-case\">OCA<\/jats:styled-content>6 in China.<\/jats:p>","DOI":"10.1111\/1346-8138.15065","type":"journal-article","created":{"date-parts":[[2019,9,5]],"date-time":"2019-09-05T04:19:29Z","timestamp":1567657169000},"page":"1027-1030","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":6,"title":["Identification of two Chinese oculocutaneous albinism type 6 patients and mutation updates of the <i><scp>SLC<\/scp>24A5<\/i> gene"],"prefix":"10.1111","volume":"46","author":[{"given":"Yunlan","family":"Zhang","sequence":"first","affiliation":[{"name":"Department of Dermatology Beijing Tongren Hospital Capital Medical University Beijing China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yingzi","family":"Zhang","sequence":"additional","affiliation":[{"name":"Department of Dermatology Shunyi Women and Children's Hospital of Beijing Children's Hospital Beijing China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Teng","family":"Liu","sequence":"additional","affiliation":[{"name":"Department of Dermatology Beijing Tongren Hospital Capital Medical University Beijing China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Dayong","family":"Bai","sequence":"additional","affiliation":[{"name":"Department of Ophthalmology Beijing Children's Hospital Capital Medical University Beijing China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Xiumin","family":"Yang","sequence":"additional","affiliation":[{"name":"Department of Dermatology Beijing Tongren Hospital Capital Medical University Beijing China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Wei","family":"Li","sequence":"additional","affiliation":[{"name":"Laboratory for Genetics of Birth Defects Beijing Pediatric Research Institute Beijing Children's Hospital Capital Medical University National Center for Children's Health Beijing China"},{"name":"Shunyi Women and Children's Hospital of Beijing Children's Hospital Beijing China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-3381-4230","authenticated-orcid":false,"given":"Aihua","family":"Wei","sequence":"additional","affiliation":[{"name":"Department of Dermatology Beijing Tongren Hospital Capital Medical University Beijing 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