{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,7,30]],"date-time":"2025-07-30T10:01:34Z","timestamp":1753869694204,"version":"3.41.2"},"reference-count":37,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2023,10,26]],"date-time":"2023-10-26T00:00:00Z","timestamp":1698278400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Molec Gen &amp;amp; Gen Med"],"published-print":{"date-parts":[[2024,1]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Background<\/jats:title><jats:p>Oculocutaneous albinism (OCA) is a group of rare autosomal recessive disorders characterized by clinical genetic heterogeneity. OCA type II (OMIM: 203200) is the most common subtype among African and African Americans, primarily caused by pathogenic variants in the <jats:italic>OCA2<\/jats:italic> (HGNC ID: 8101) gene. In this study, we presented a Chinese family with OCA and reported two novel variants in the <jats:italic>OCA2<\/jats:italic> gene.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>Whole\u2010exome sequencing (WES) was performed to identify pathogenic variants in the proband. The candidate variants were subsequently validated using Sanger sequencing and QPCR assay. Additionally, bioinformatics analyses were employed to predict the deleteriousness and conservation of the identified mutations.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>In the 16\u2010year\u2010old male proband, two novel compound heterozygous <jats:italic>OCA2<\/jats:italic> variants, NM_000275.3: c.1640T&gt;G (NP_000266.2: p.L547R) and an exons 10\u201019 deletion variant, were identified. Meanwhile, a reported heterozygous variant c.1441G&gt;A\/p.A481T (NM_000275.3, NP_000266.2) in the <jats:italic>OCA2<\/jats:italic> gene was also found in the proband. Sanger sequencing confirmed that the two variants c.1441G&gt;A\/p.A481T and c.1640T&gt;G\/p.L547R were inherited from his father. Moreover, qPCR assay revealed that the exons 10\u201019 deletion was inherited from the mother, his sister also carried this variant. Fortunately, the variant was not detected in the amniotic fluid of the proband's sister. Multiple online bioinformatics tools predicted the variant c.1640T&gt;G to be damaging, leading to the replacement of a highly conserved leucine with an arginine. The gross exon 10\u201019 deletion in the <jats:italic>OCA2<\/jats:italic> gene resulted in a truncated, non\u2010functional protein losing the 3\u20139 transmembrane \u03b1\u2010helices domains. According to the American College of Medical Genetics and Genomics classification, these three variants in the <jats:italic>OCA2<\/jats:italic> gene were evaluated as likely pathogenic.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusion<\/jats:title><jats:p>This study has identified two novel compound variants in the <jats:italic>OCA2<\/jats:italic> gene and a previously reported variant in a Chinese family with OCA. By expanding the mutation spectrum of the <jats:italic>OCA2<\/jats:italic> gene, our findings contribute to a better understanding of the genetic basis of OCA.<\/jats:p><\/jats:sec>","DOI":"10.1002\/mgg3.2297","type":"journal-article","created":{"date-parts":[[2023,10,26]],"date-time":"2023-10-26T09:59:34Z","timestamp":1698314374000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["Novel compound heterozygous mutations in <i>OCA2<\/i> gene were identified in a Chinese family with oculocutaneous albinism"],"prefix":"10.1002","volume":"12","author":[{"ORCID":"https:\/\/orcid.org\/0009-0006-6622-6143","authenticated-orcid":false,"given":"Beilei","family":"Jiang","sequence":"first","affiliation":[{"name":"Prenatal Diagnosis Center Binhu District of Hefei First People's Hospital  Hefei Anhui 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