{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,3,6]],"date-time":"2026-03-06T21:07:19Z","timestamp":1772831239811,"version":"3.50.1"},"reference-count":34,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2025,4,8]],"date-time":"2025-04-08T00:00:00Z","timestamp":1744070400000},"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","award":["82373505"],"award-info":[{"award-number":["82373505"]}],"id":[{"id":"10.13039\/501100001809","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100001809","name":"National Natural Science Foundation of China","doi-asserted-by":"publisher","award":["82173447"],"award-info":[{"award-number":["82173447"]}],"id":[{"id":"10.13039\/501100001809","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100001809","name":"National Natural Science Foundation of China","doi-asserted-by":"publisher","award":["32293204"],"award-info":[{"award-number":["32293204"]}],"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":[[2025,5]]},"abstract":"<jats:title>ABSTRACT<\/jats:title><jats:p>Oculocutaneous albinism (OCA) is a complex genetic disorder characterized by reduced or absent pigmentation in the skin, hair, and eyes. Among the eight known subtypes, OCA\u20104 is caused by a mutation in <jats:italic>SLC45A2<\/jats:italic>, which plays a crucial role in melanin biosynthesis. While autosomal recessive inheritance is the most common pattern for all OCA subtypes, autosomal dominant cases are extremely rare. We report three patients from a Chinese family exhibiting autosomal dominant OCA\u20104. Clinical assessments evaluated pigmentation and ocular features in affected family members. Next\u2010generation sequencing was performed to identify pathogenic variants, and functional studies in MNT\u20101 cells were performed to explore the variant's biological effects. Patients exhibited mild hypopigmentation and foveal hypoplasia, consistent with the OCA\u20104 phenotype. Genetic analysis identified a heterozygous c.208T&gt;C (p.Tyr70His) variant in <jats:italic>SLC45A2<\/jats:italic>, the same variant that has been previously reported in association with autosomal dominant OCA\u20104. Functional studies demonstrated that this variant caused protein retention in the endoplasmic reticulum, resulting in reduced melanin production. This family represents the first documented cases of autosomal dominant OCA\u20104 in the Chinese population and only the second reported worldwide. Our findings confirm that the p.Tyr70His variant causes autosomal dominant OCA\u20104. This study deepens our understanding of OCA\u20104's genetic mechanisms and increases the complexity of its inheritance patterns in genetic counseling.<\/jats:p>","DOI":"10.1111\/pcmr.70013","type":"journal-article","created":{"date-parts":[[2025,4,8]],"date-time":"2025-04-08T11:14:22Z","timestamp":1744110862000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":1,"title":["Unusual Autosomal Dominant Inheritance of Oculocutaneous Albinism Type 4 (<scp>OCA<\/scp>\u20104): Clinical and Functional Features From A Chinese Family"],"prefix":"10.1111","volume":"38","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-3772-9068","authenticated-orcid":false,"given":"Yingzi","family":"Zhang","sequence":"first","affiliation":[{"name":"Department of Dermatology Beijing Tongren Hospital, Capital Medical University  Beijing China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Teng","family":"Liu","sequence":"additional","affiliation":[{"name":"Department of Dermatology Beijing Hospital, National Center of Gerontology, Institute of Geriatric Medicine, Chinese Academy of Medical Sciences  Beijing China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0009-0007-5415-9593","authenticated-orcid":false,"given":"Qingsong","family":"Yang","sequence":"additional","affiliation":[{"name":"Beijing Key Laboratory for Genetics of Birth Defects, Beijing Pediatric Research Institute, MOE Key Laboratory of Major Diseases in Children, Genetics and Birth Defects Control Center, National Center for Children's Health Beijing Children's Hospital, Capital Medical University  Beijing China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Xuyun","family":"Hu","sequence":"additional","affiliation":[{"name":"Beijing Key Laboratory for Genetics of Birth Defects, Beijing Pediatric Research Institute, MOE Key Laboratory of Major Diseases in Children, Genetics and Birth Defects Control Center, National Center for Children's Health Beijing Children's Hospital, Capital Medical University  Beijing China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-0248-5510","authenticated-orcid":false,"given":"Wei","family":"Li","sequence":"additional","affiliation":[{"name":"Beijing Key Laboratory for Genetics of Birth Defects, Beijing Pediatric Research Institute, MOE Key Laboratory of Major Diseases in Children, Genetics and Birth Defects Control Center, National Center for Children's Health Beijing Children's Hospital, Capital Medical University  Beijing China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Aihua","family":"Wei","sequence":"additional","affiliation":[{"name":"Department of Dermatology Beijing Tongren Hospital, Capital Medical University  Beijing China"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2025,4,8]]},"reference":[{"key":"e_1_2_9_2_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41586-024-07487-w"},{"key":"e_1_2_9_3_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.23401"},{"key":"e_1_2_9_4_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.preteyeres.2022.101091"},{"issue":"6","key":"e_1_2_9_5_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 \u2018OCA3\u2019","volume":"58","author":"Boissy R. 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