{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,4,14]],"date-time":"2026-04-14T00:55:37Z","timestamp":1776128137902,"version":"3.50.1"},"reference-count":14,"publisher":"Wiley","issue":"6","license":[{"start":{"date-parts":[[2007,3,27]],"date-time":"2007-03-27T00:00:00Z","timestamp":1174953600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Prenatal Diagnosis"],"published-print":{"date-parts":[[2007,6]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Objective<\/jats:title><jats:p>The prenatal genetic diagnosis and counseling of oculocutaneous albinism type II (OCA2) by detecting mutations in the OCA2 gene<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>DNA samples were extracted from peripheral whole blood and amniocentesis\u2010derived cells. Polymerase chain reaction and automatic sequence analysis were used to screen the OCA2 gene.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>Case 1: Two novel heterozygous mutations (p.N476D and p.Y827H) in the <jats:italic>P<\/jats:italic> gene were detected in the proband. Molecular prenatal diagnosis on fetal DNA revealed N476D. The pregnancy progressed uneventfully to a normal outcome. Case 2: Mutation analysis of the DNA of family 2 revealed compound heterozygosities for two novel <jats:italic>P<\/jats:italic> gene mutations (p.N476D and p.G775R). The pregnant female and the fetus each presented with a single <jats:italic>P<\/jats:italic> gene mutation (p.V443I and G775R, respectively). The pregnancy was continued.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusion<\/jats:title><jats:p>This is the first report of prenatal diagnosis performed in families with oculocutaneous albinism type II (OCA2). Also, this report reveals three novel mutations of the <jats:italic>P<\/jats:italic> gene. Copyright \u00a9 2007 John Wiley &amp; Sons, Ltd.<\/jats:p><\/jats:sec>","DOI":"10.1002\/pd.1713","type":"journal-article","created":{"date-parts":[[2007,3,27]],"date-time":"2007-03-27T10:47:45Z","timestamp":1174992465000},"page":"502-506","source":"Crossref","is-referenced-by-count":9,"title":["Prenatal diagnosis of oculocutaneous albinism type II and novel mutations in two Chinese families"],"prefix":"10.1002","volume":"27","author":[{"given":"Li","family":"Hongyi","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Wei","family":"Haiyun","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Zheng","family":"Hui","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Wenren","family":"Qing","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Duan","family":"Honglei","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Meng","family":"Shu","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jiang","family":"Weiying","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2007,3,27]]},"reference":[{"key":"e_1_2_1_2_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0002-9440(10)62247-X"},{"key":"e_1_2_1_3_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1600-0749.1995.tb00668.x"},{"key":"e_1_2_1_4_1","doi-asserted-by":"publisher","DOI":"10.1002\/1097-0223(200103)21:3<200::AID-PD31>3.0.CO;2-J"},{"key":"e_1_2_1_5_1","doi-asserted-by":"publisher","DOI":"10.1056\/NEJM199402243300803"},{"key":"e_1_2_1_6_1","doi-asserted-by":"publisher","DOI":"10.1016\/0888-7543(95)80220-G"},{"key":"e_1_2_1_7_1","doi-asserted-by":"publisher","DOI":"10.1002\/pd.1439"},{"key":"e_1_2_1_8_1","doi-asserted-by":"publisher","DOI":"10.1086\/324340"},{"key":"e_1_2_1_9_1","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1098-1004(1999)13:2<99::AID-HUMU2>3.0.CO;2-C"},{"key":"e_1_2_1_10_1","doi-asserted-by":"publisher","DOI":"10.1034\/j.1600-0749.2003.00045.x"},{"key":"e_1_2_1_11_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.9318"},{"key":"e_1_2_1_12_1","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.91.25.12071"},{"key":"e_1_2_1_13_1","doi-asserted-by":"publisher","DOI":"10.1046\/j.1523-1747.2003.12127.x"},{"key":"e_1_2_1_14_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.20044"},{"key":"e_1_2_1_15_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1365-2133.2005.06403.x"}],"container-title":["Prenatal Diagnosis"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fpd.1713","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/obgyn.onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/pd.1713","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,11,15]],"date-time":"2023-11-15T14:27:34Z","timestamp":1700058454000},"score":1,"resource":{"primary":{"URL":"https:\/\/obgyn.onlinelibrary.wiley.com\/doi\/10.1002\/pd.1713"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2007,3,27]]},"references-count":14,"journal-issue":{"issue":"6","published-print":{"date-parts":[[2007,6]]}},"alternative-id":["10.1002\/pd.1713"],"URL":"https:\/\/doi.org\/10.1002\/pd.1713","archive":["Portico"],"relation":{},"ISSN":["0197-3851","1097-0223"],"issn-type":[{"value":"0197-3851","type":"print"},{"value":"1097-0223","type":"electronic"}],"subject":[],"published":{"date-parts":[[2007,3,27]]}}}