{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,29]],"date-time":"2026-09-29T13:31:58Z","timestamp":1790688718505,"version":"4.1.0"},"reference-count":42,"publisher":"Wiley","issue":"7","license":[{"start":{"date-parts":[[2019,6,14]],"date-time":"2019-06-14T00:00:00Z","timestamp":1560470400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100001809","name":"National Natural Science Foundation of China","doi-asserted-by":"publisher","award":["81502424"],"award-info":[{"award-number":["81502424"]}],"id":[{"id":"10.13039\/501100001809","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100001809","name":"National Natural Science Foundation of China","doi-asserted-by":"publisher","award":["81671476"],"award-info":[{"award-number":["81671476"]}],"id":[{"id":"10.13039\/501100001809","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Molec Gen &amp; Gen Med"],"published-print":{"date-parts":[[2019,7]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:sec>\n                    <jats:title>Background<\/jats:title>\n                    <jats:p>\n                      Oculocutaneous albinism (OCA) is a group of heterogeneous autosomal recessive genetic disorder of melanin synthesis results in hypopigmented hair, skin, and eyes. OCA type 1, OCA type 2, and OCA type 4, which are respectively caused by mutations in\n                      <jats:italic>TYR<\/jats:italic>\n                      ,\n                      <jats:italic>OCA2,<\/jats:italic>\n                      and\n                      <jats:italic>SLC45A2<\/jats:italic>\n                      have high morbidity rates in Asia.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Methods<\/jats:title>\n                    <jats:p>\n                      <jats:italic>TYR<\/jats:italic>\n                      ,\n                      <jats:italic>OCA2,<\/jats:italic>\n                      and\n                      <jats:italic>SLC45A2<\/jats:italic>\n                      mutation analysis was carried out on 18 nonconsanguineous OCA patients and four fetuses were included for prenatal diagnose. Three genes of all individuals were amplified by polymerase chain reaction and examined by Sanger sequencing. The pathogenicity of the detected mutations were analyzed by Mutation Taster, PolyPhen 2, and SIFT software, and the conservation of the substituted amino acids were analyzed by MEGA software.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results<\/jats:title>\n                    <jats:p>\n                      Eleven\n                      <jats:italic>TYR<\/jats:italic>\n                      mutations, three\n                      <jats:italic>OCA2<\/jats:italic>\n                      mutations, and two\n                      <jats:italic>SLC45A2<\/jats:italic>\n                      mutations were identified in 14 OCA type 1 patients, two OCA type 2 patients, and two OCA type 4 patients. c.1021A&gt;G, p.R341G in\n                      <jats:italic>TYR<\/jats:italic>\n                      , c.1096_1104del, p.V366*, and c.1079C&gt;T, p.S360F in\n                      <jats:italic>OCA2<\/jats:italic>\n                      were novel. One of the four fetuses carried compound heterozygous mutation of\n                      <jats:italic>TYR<\/jats:italic>\n                      and became spontaneous abortion, the other three carried no mutations and appeared normal at birth.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusion<\/jats:title>\n                    <jats:p>In this study, specific clinical characteristics of OCA patients were described. Three novel pathogenic mutations were identified which will enrich the mutation spectrum of OCA, and the prenatal genetic screening in fetus at risk of OCA can provide vital information for genetic counseling.<\/jats:p>\n                  <\/jats:sec>","DOI":"10.1002\/mgg3.687","type":"journal-article","created":{"date-parts":[[2019,6,14]],"date-time":"2019-06-14T10:44:27Z","timestamp":1560509067000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":13,"title":["Mutational Analysis of\n                    <i>TYR<\/i>\n                    ,\n                    <i>OCA2,<\/i>\n                    and\n                    <i>SLC45A2<\/i>\n                    Genes in Chinese Families with Oculocutaneous Albinism"],"prefix":"10.1002","volume":"7","author":[{"given":"Ye","family":"Lin","sequence":"first","affiliation":[{"name":"The General Hospital of the People's Liberation Army Beijing P.R. China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-7115-9615","authenticated-orcid":false,"given":"Xihui","family":"Chen","sequence":"additional","affiliation":[{"name":"Department of Biochemistry and Molecular Biology Center for DNA Typing, Air Force Medical University Xi'an Shaanxi P.R. China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ying","family":"Yang","sequence":"additional","affiliation":[{"name":"Shaanxi Institute of Pediatric Diseases, Xi\u2019an Children\u2019s Hospital Xi\u2019an Shaanxi P.R. China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Fengyu","family":"Che","sequence":"additional","affiliation":[{"name":"Shaanxi Institute of Pediatric Diseases, Xi\u2019an Children\u2019s Hospital Xi\u2019an Shaanxi P.R. China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sijia","family":"Zhang","sequence":"additional","affiliation":[{"name":"Department of Biochemistry and Molecular Biology Center for DNA Typing, Air Force Medical University Xi'an Shaanxi P.R. China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lijuan","family":"Yuan","sequence":"additional","affiliation":[{"name":"Department of Biochemistry and Molecular Biology Center for DNA Typing, Air Force Medical University Xi'an Shaanxi P.R. China"},{"name":"Department of General Surgery Tangdu Hospital, Air Force Medical University Xi\u2019an Shaanxi P.R. China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yuanming","family":"Wu","sequence":"additional","affiliation":[{"name":"Department of Biochemistry and Molecular Biology Center for DNA Typing, Air Force Medical University Xi'an Shaanxi P.R. 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