{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,4,17]],"date-time":"2026-04-17T13:39:32Z","timestamp":1776433172424,"version":"3.51.2"},"reference-count":29,"publisher":"Wiley","issue":"6","license":[{"start":{"date-parts":[[2023,7,5]],"date-time":"2023-07-05T00:00:00Z","timestamp":1688515200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/501100012166","name":"National Basic Research Program of China","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100012166","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":[[2023,11]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Oculocutaneous albinism (OCA) is a genetically heterogeneous disease and is most inherited in an autosomal recessive manner. The characteristic manifestation of OCA is due to disfunction of melanin synthesis. OCA1 is the most severe subtype of OCA and is caused by homozygous or compound heterozygous variants in tyrosinase (TYR) gene, which is the key gene for melanin synthesis. This study aimed to identify the genetic variants of a northern Chinese family with OCA1. Clinical information and peripheral blood samples were collected. PCR amplification and Sanger sequencing were used to detect the entire exons and adjacent flanking sequences of <jats:italic>TYR<\/jats:italic> gene. Functional prediction of variants was performed by various bioinformatic analyses, while the pathogenicity classification of variants was evaluated according to ACMG standards and guidelines. A missense variant NM_000372.5:c.107G\u2009&gt;\u2009C;NP_000363.1:p.C36S was discovered in <jats:italic>TYR<\/jats:italic> gene which converted cysteine to serine. Another variant in intron, NM_000372.5:c.1037\u20137\u2009T\u2009&gt;\u2009A, also affected the function of <jats:italic>TYR<\/jats:italic> gene. We verified the pathogenicity of the intron variant with a pCAS2 mini\u2010gene based splicing assay and found that c.1037\u20137\u2009T\u2009&gt;\u2009A led to an insertion of 5\u2009bp upstream from the common acceptor site of exon 3, which caused a frameshift <jats:italic>TYR<\/jats:italic>:c.1037\u20137\u2009T\u2009&gt;\u2009A:p.G346Efs*11. The results showed that the compound heterozygous variants c.107G\u2009&gt;\u2009C:p.C36S and c.1037\u20137\u2009T\u2009&gt;\u2009A:p.G346Efs*11 of <jats:italic>TYR<\/jats:italic> gene were the pathogenic variants for this OCA1 family.<\/jats:p>","DOI":"10.1111\/pcmr.13111","type":"journal-article","created":{"date-parts":[[2023,7,5]],"date-time":"2023-07-05T11:33:58Z","timestamp":1688556838000},"page":"472-480","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":3,"title":["Identification and characterization of the compound heterozygous variants of <scp><i>TYR<\/i><\/scp> gene in a northern Chinese family with Oculocutaneous albinism type 1"],"prefix":"10.1111","volume":"36","author":[{"given":"Shuhan","family":"Si","sequence":"first","affiliation":[{"name":"Laboratory of Medical Genetics (Key Laboratory of Preservation of Human Genetic Resources and Disease Control in China, Ministry of Education) Harbin Medical University  Harbin China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Xueyuan","family":"Jia","sequence":"additional","affiliation":[{"name":"Laboratory of Medical Genetics (Key Laboratory of Preservation of Human Genetic Resources and Disease Control in China, Ministry of Education) Harbin Medical University  Harbin China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Lidan","family":"Xu","sequence":"additional","affiliation":[{"name":"Laboratory of Medical Genetics (Key Laboratory of Preservation of Human Genetic Resources and Disease Control in China, Ministry of Education) Harbin Medical University  Harbin China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Qian","family":"Qin","sequence":"additional","affiliation":[{"name":"Laboratory of Medical Genetics (Key Laboratory of Preservation of Human Genetic Resources and Disease Control in China, Ministry of Education) Harbin Medical University  Harbin 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