{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,14]],"date-time":"2026-07-14T14:57:03Z","timestamp":1784041023760,"version":"3.55.0"},"reference-count":30,"publisher":"Wiley","issue":"9","license":[{"start":{"date-parts":[[2022,7,23]],"date-time":"2022-07-23T00:00:00Z","timestamp":1658534400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"}],"funder":[{"DOI":"10.13039\/100007224","name":"National Foundation for Science and Technology Development","doi-asserted-by":"publisher","award":["108.02\u20102019.05"],"award-info":[{"award-number":["108.02\u20102019.05"]}],"id":[{"id":"10.13039\/100007224","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Clinical Laboratory Analysis"],"published-print":{"date-parts":[[2022,9]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Background<\/jats:title><jats:p>Oculocutaneous albinism (OCA) is an autosomal recessive disease with hypopigmentation in skin, hair, and eyes, causing by the complete absence or reduction of melanin in melanocytes. Many types of OCA were observed based on the mutation in different causing genes relating to albinism. OCA can occur in non\u2010syndromic and syndromic forms, where syndromic OCA coexists with additional systemic consequences beyond hypopigmentation and visual\u2010associated symptoms.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>We performed whole exome sequencing in seven affected individuals (P1\u2010P7) for mutation identification, and then, Sanger sequencing was used for verifications.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>Among them, five patients (P1\u2010P5) have mutations on <jats:italic>TYR<\/jats:italic> gene including c.346C\u2009&gt;\u2009T, c.929insC, c.115\u2009T\u2009&gt;\u2009C, and c.559_560ins25. The mutation on <jats:italic>OCA2<\/jats:italic> and <jats:italic>HPS1<\/jats:italic> genes was found in patient 6 (P6, <jats:italic>OCA2<\/jats:italic> c.2323G\u2009&gt;\u2009A) and patient 7 (P7, <jats:italic>HPS1<\/jats:italic> c.972delC), respectively. Confirmation in parents (except the family of the elderly patient, P5) showed that the mother and the father in each family carried one of the variants that were detected in patients. Additionally, the effective genetic counseling was applied in the third pregnancy of a family with two OCA children (P1 and P2).<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusion<\/jats:title><jats:p>To our best knowledge, this is the first case with a novel homozygous missense mutation (c.115\u2009T\u2009&gt;\u2009C, p.W39R) in the <jats:italic>TYR<\/jats:italic> gene. This study provides a broader spectrum of mutations linked to the oculocutaneous albinism, an additional scientific basis for diagnosis, and appropriate genetic counseling for risk couples.<\/jats:p><\/jats:sec>","DOI":"10.1002\/jcla.24625","type":"journal-article","created":{"date-parts":[[2022,7,23]],"date-time":"2022-07-23T19:24:42Z","timestamp":1658604282000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":1,"title":["Genetic analyses of Vietnamese patients with oculocutaneous albinism"],"prefix":"10.1002","volume":"36","author":[{"given":"Ma Thi Huyen","family":"Thuong","sequence":"first","affiliation":[{"name":"Institute of Genome Research (IGR) Vietnam Academy of Science and Technology (VAST)  Ha Noi Vietnam"},{"name":"Graduated University of Science and Technology Vietnam Academy of Science and Technology (VAST)  Ha Noi Vietnam"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Luong Thi Lan","family":"Anh","sequence":"additional","affiliation":[{"name":"Department of Medical Biology and Genetics Hanoi Medical University  Hanoi Viet Nam"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Vu Phuong","family":"Nhung","sequence":"additional","affiliation":[{"name":"Institute of Genome Research (IGR) Vietnam Academy of Science and Technology (VAST)  Ha Noi Vietnam"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tran Thi Bich","family":"Ngoc","sequence":"additional","affiliation":[{"name":"Institute of Genome Research (IGR) Vietnam Academy of Science and Technology (VAST)  Ha Noi Vietnam"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hoang Thu","family":"Lan","sequence":"additional","affiliation":[{"name":"Department of Medical Biology and Genetics Hanoi Medical University  Hanoi Viet Nam"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Doan 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