{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,9,30]],"date-time":"2025-09-30T04:10:09Z","timestamp":1759205409568,"version":"3.44.0"},"reference-count":22,"publisher":"Wiley","issue":"9","license":[{"start":{"date-parts":[[2025,8,25]],"date-time":"2025-08-25T00:00:00Z","timestamp":1756080000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Clinical Case Reports"],"published-print":{"date-parts":[[2025,9]]},"abstract":"<jats:title>ABSTRACT<\/jats:title><jats:p>Oculocutaneous albinism type IA (OCA1A) is a rare autosomal recessive disorder caused by variants in the TYR gene, resulting in complete loss of tyrosinase activity and absence of melanin production. In this study, we report a novel missense variant, <jats:italic>TYR<\/jats:italic> (NM_000372.5):c.143A&gt;C (p.Gln48Pro), found within exon 1 and mapped to chr11: g.89178096A&gt;C (GRCh38\/hg38). This variant was identified through exome sequencing in a 4\u2010year\u2010old Iranian girl from a consanguineous family presenting with features of OCA1A. This discovery expands the mutational spectrum of OCA1 and underscores the importance of genetic screening in diagnosing rare inherited disorders. Future studies involving functional assays are necessary to elucidate the molecular mechanisms of this variant and its potential impact on melanogenesis.<\/jats:p>","DOI":"10.1002\/ccr3.70818","type":"journal-article","created":{"date-parts":[[2025,8,25]],"date-time":"2025-08-25T12:55:19Z","timestamp":1756126519000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["Genetic Diagnosis of Oculocutaneous Albinism Type <scp>1A<\/scp>: A Novel <scp><i>TYR<\/i><\/scp> Variant"],"prefix":"10.1002","volume":"13","author":[{"ORCID":"https:\/\/orcid.org\/0009-0003-2691-1929","authenticated-orcid":false,"given":"Raghad N.","family":"Shihab","sequence":"first","affiliation":[{"name":"Cancer Researches Department, Iraqi Center for Cancer and Medical Genetic Research Mustansiriyah University  Baghdad Iraq"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-7409-9179","authenticated-orcid":false,"given":"Rusul Thabit","family":"Hamid","sequence":"additional","affiliation":[{"name":"Cancer Researches Department, Iraqi Center for Cancer and Medical Genetic Research Mustansiriyah University  Baghdad Iraq"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-9359-2054","authenticated-orcid":false,"given":"Mostafa","family":"Neissi","sequence":"additional","affiliation":[{"name":"Department of Genetics, Khuzestan Science and Research Branch Islamic Azad University  Ahvaz Iran"},{"name":"Department of Genetics, Ahvaz Branch Islamic Azad University  Ahvaz Iran"},{"name":"Noor\u2010Gene Genetic Laboratory  Ahvaz Iran"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0009-0008-5185-8214","authenticated-orcid":false,"given":"Javad","family":"Mohammadi\u2010Asl","sequence":"additional","affiliation":[{"name":"Noor\u2010Gene Genetic Laboratory  Ahvaz Iran"},{"name":"Department of Medical Genetics, School of Medicine Ahvaz Jundishapur University of Medical Sciences  Ahvaz Iran"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-5746-5376","authenticated-orcid":false,"given":"Motahareh","family":"Sheikh\u2010Hosseini","sequence":"additional","affiliation":[{"name":"Noor\u2010Gene Genetic Laboratory  Ahvaz Iran"},{"name":"Pediatric Cell &amp; Gene Therapy Research Center Tehran University of Medical Sciences  Tehran Iran"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-3651-552X","authenticated-orcid":false,"given":"Elaheh","family":"Nekouei","sequence":"additional","affiliation":[{"name":"Department of Biomedical and Clinical Science Link\u00f6ping University, University Hospital  Link\u00f6ping Sweden"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2025,8,25]]},"reference":[{"key":"e_1_2_12_2_1","doi-asserted-by":"publisher","DOI":"10.1155\/2014\/905472"},{"key":"e_1_2_12_3_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00431\u2010023\u201004938\u2010w"},{"key":"e_1_2_12_4_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00403\u2010022\u201002335\u20101"},{"key":"e_1_2_12_5_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41598\u2010024\u201057969\u20100"},{"key":"e_1_2_12_6_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/3.suppl_1.1469"},{"key":"e_1_2_12_7_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41431\u2010021\u201000809\u2010w"},{"key":"e_1_2_12_8_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320430523"},{"key":"e_1_2_12_9_1","doi-asserted-by":"publisher","DOI":"10.1007\/978-3-319-18389-3_8"},{"key":"e_1_2_12_10_1","doi-asserted-by":"publisher","DOI":"10.1002\/ccr3.8666"},{"key":"e_1_2_12_11_1","doi-asserted-by":"publisher","DOI":"10.1007\/s44162\u2010025\u201000066\u20101"},{"key":"e_1_2_12_12_1","doi-asserted-by":"publisher","DOI":"10.1002\/ccr3.9506"},{"key":"e_1_2_12_13_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.plabm.2025.e00462"},{"key":"e_1_2_12_14_1","doi-asserted-by":"publisher","DOI":"10.1021\/bi801552y"},{"key":"e_1_2_12_15_1","doi-asserted-by":"publisher","DOI":"10.1007\/s12551\u2010020\u201000621\u20108"},{"key":"e_1_2_12_16_1","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1098\u20101004(1997)10:2<171::AID\u2010HUMU11>3.0.CO;2\u2010X"},{"key":"e_1_2_12_17_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jdermsci.2008.07.002"},{"key":"e_1_2_12_18_1","doi-asserted-by":"publisher","DOI":"10.3892\/mmr.2018.8881"},{"key":"e_1_2_12_19_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jbc.2022.101922"},{"key":"e_1_2_12_20_1","doi-asserted-by":"publisher","DOI":"10.5812\/jhgg.63718"},{"key":"e_1_2_12_21_1","doi-asserted-by":"publisher","DOI":"10.3390\/biomedicines12102234"},{"key":"e_1_2_12_22_1","doi-asserted-by":"publisher","DOI":"10.3389\/fgene.2020.00749"},{"key":"e_1_2_12_23_1","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pone.0125651"}],"container-title":["Clinical Case Reports"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ccr3.70818","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,9,30]],"date-time":"2025-09-30T03:56:06Z","timestamp":1759204566000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ccr3.70818"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2025,8,25]]},"references-count":22,"journal-issue":{"issue":"9","published-print":{"date-parts":[[2025,9]]}},"alternative-id":["10.1002\/ccr3.70818"],"URL":"https:\/\/doi.org\/10.1002\/ccr3.70818","archive":["Portico"],"relation":{},"ISSN":["2050-0904","2050-0904"],"issn-type":[{"type":"print","value":"2050-0904"},{"type":"electronic","value":"2050-0904"}],"subject":[],"published":{"date-parts":[[2025,8,25]]},"assertion":[{"value":"2025-03-02","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2025-08-13","order":2,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2025-08-25","order":3,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}],"article-number":"e70818"}}