{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,15]],"date-time":"2026-07-15T19:38:20Z","timestamp":1784144300357,"version":"3.55.0"},"reference-count":30,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2024,2,9]],"date-time":"2024-02-09T00:00:00Z","timestamp":1707436800000},"content-version":"vor","delay-in-days":8,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc\/4.0\/"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Molec Gen &amp;amp; Gen Med"],"published-print":{"date-parts":[[2024,2]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Background<\/jats:title><jats:p>Oculocutaneous albinism type 4 (OCA4) is a rare autosomal recessive disorder characterized by a reduction of pigmentation in skin, hair, and eyes, and OCA4 is mainly seen in the <jats:italic>SLC45A2<\/jats:italic> gene variants.<\/jats:p><\/jats:sec><jats:sec><jats:title>Objective<\/jats:title><jats:p>To report a Chinese patient suspected of oculocutaneous albinism and identify the causing mutation.<\/jats:p><\/jats:sec><jats:sec><jats:title>Method<jats:bold>s<\/jats:bold><\/jats:title><jats:p>Genomic DNA was extracted from the peripheral blood samples of the patient, his parents, and elder brother. Whole exome sequencing was performed in the family, and Sanger sequencing was then used to verify the mutations.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>Compound heterozygous variants, c.1304C&gt;A (p.S435Y) and c.301C&gt;G (p.R101G) in <jats:italic>SLC45A2<\/jats:italic> gene, were detected in the proband, which were inherited from his father and mother respectively. Based on the ACMG guidelines, we can interpret the c.1304C&gt;A (p.S435Y) variant as a suspected pathogenic variant and the c.301C&gt;G (p.R101G) variant as a clinically significant unspecified variant. The diagnosis of OCA4 is confirmed.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusion<\/jats:title><jats:p>We firstly reported this case of OCA4 with the compound heterozygous variants in the <jats:italic>SLC45A2<\/jats:italic> gene. Our findings further enrich the reservoir of <jats:italic>SLC45A2<\/jats:italic> mutations in OCA4.<\/jats:p><\/jats:sec>","DOI":"10.1002\/mgg3.2385","type":"journal-article","created":{"date-parts":[[2024,2,10]],"date-time":"2024-02-10T05:23:35Z","timestamp":1707542615000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":3,"title":["Oculocutaneous albinism type 4: Novel compound heterozygous mutations in the <scp>SLC45A2<\/scp> gene in a Chinese case"],"prefix":"10.1002","volume":"12","author":[{"given":"Danyue","family":"He","sequence":"first","affiliation":[{"name":"Department of Dermatology The First Affiliated Hospital of Anhui Medical University  Hefei Anhui P.R. China"},{"name":"Key Laboratory of Dermatology (Anhui Medical University), Ministry of Education  Hefei Anhui P.R. China"},{"name":"Key Laboratory of Major Autoimmune Diseases  Hefei Anhui P.R. 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