{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,30]],"date-time":"2025-10-30T17:11:09Z","timestamp":1761844269541},"reference-count":9,"publisher":"Wiley","issue":"11","license":[{"start":{"date-parts":[[2013,7,2]],"date-time":"2013-07-02T00:00:00Z","timestamp":1372723200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J of Obstet and Gynaecol"],"published-print":{"date-parts":[[2013,11]]},"abstract":"Abstract<\/jats:title>Lenz microphthalmia syndrome comprises microphthalmia\u2013anophthalmia with mental retardation, malformed ears and skeletal anomalies, and is inherited in an X<\/jats:styled-content>\u2010linked recessive pattern. In 2004, it was reported that the missense mutation (BCL<\/jats:styled-content>\u20106 co\u2010repressor gene [BCOR<\/jats:styled-content><\/jats:italic>] c.254C>T<\/jats:styled-content>, p.P85L<\/jats:styled-content>) in a single family with L<\/jats:styled-content>enz microphthalmia syndrome co\u2010segregated with the disease phenotype. We report a case of prenatal diagnosis for X<\/jats:styled-content>\u2010linked recessive L<\/jats:styled-content>enz microphthalmia syndrome with the mutation. A 32\u2010year\u2010old gravida 5, para 2 Japanese woman was referred to N<\/jats:styled-content>agoya C<\/jats:styled-content>ity U<\/jats:styled-content>niversity H<\/jats:styled-content>ospital at 15 weeks of gestation. After genetic counseling and informed consent, amniocentesis was performed for fetal karyotyping, which was 46,XY<\/jats:styled-content>. Using the extracted DNA<\/jats:styled-content> from cultured amniotic cells, fetal search for BCOR<\/jats:styled-content><\/jats:italic> c.254C>T<\/jats:styled-content> mutation was undertaken. The couple requested medical termination of pregnancy, and the postabortion examination confirmed the diagnosis. This is the third report of a BCOR<\/jats:styled-content><\/jats:italic> mutation, associated with X<\/jats:styled-content>\u2010linked syndromic microphthalmia, and most importantly, it is always the same mutation. The prenatal genetic diagnosis of the Lenz microphthalmia syndrome allowed time for parental counseling and delivery planning.<\/jats:p>","DOI":"10.1111\/jog.12081","type":"journal-article","created":{"date-parts":[[2013,7,2]],"date-time":"2013-07-02T09:04:53Z","timestamp":1372755893000},"page":"1545-1547","source":"Crossref","is-referenced-by-count":15,"title":["Prenatal diagnosis of X<\/scp>\u2010linked recessive L<\/scp>enz microphthalmia syndrome"],"prefix":"10.1111","volume":"39","author":[{"given":"Nobuhiro","family":"Suzumori","sequence":"first","affiliation":[{"name":"Departments of Obstetrics and Gynecology Nagoya City University Graduate School of Medical Sciences Nagoya"},{"name":"Division of Clinical and Molecular Genetics Nagoya City University Graduate School of Medical Sciences Nagoya"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Tadashi","family":"Kaname","sequence":"additional","affiliation":[{"name":"Departments of Medical Genetics University of the Ryukyus Faculty of Medicine Nishihara"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yukako","family":"Muramatsu","sequence":"additional","affiliation":[{"name":"Division of Clinical and Molecular Genetics Nagoya City University Graduate School of Medical Sciences Nagoya"},{"name":"Department of Clinical Genetics Central Hospital Aichi Human Service Center Kasugai Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Kumiko","family":"Yanagi","sequence":"additional","affiliation":[{"name":"Departments of Medical Genetics University of the Ryukyus Faculty of Medicine Nishihara"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Kyoko","family":"Kumagai","sequence":"additional","affiliation":[{"name":"Departments of Obstetrics and Gynecology Nagoya City University Graduate School of Medical Sciences Nagoya"},{"name":"Division of Clinical and Molecular Genetics Nagoya City University Graduate School of Medical Sciences Nagoya"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Seiji","family":"Mizuno","sequence":"additional","affiliation":[{"name":"Department of Clinical Genetics Central Hospital Aichi Human Service Center Kasugai Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Kenji","family":"Naritomi","sequence":"additional","affiliation":[{"name":"Departments of Medical Genetics University of the Ryukyus Faculty of Medicine Nishihara"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Shinji","family":"Saitoh","sequence":"additional","affiliation":[{"name":"Departments of Pediatrics and Neonatology Nagoya City University Graduate School of Medical Sciences Nagoya"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mayumi","family":"Sugiura\u2010Ogasawara","sequence":"additional","affiliation":[{"name":"Departments of Obstetrics and Gynecology Nagoya City University Graduate School of Medical Sciences Nagoya"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2013,7,2]]},"reference":[{"key":"e_1_2_4_2_1","first-page":"147","article-title":"Lenz microphthalmia syndrome: Three additional cases with rare associated anomalies","volume":"11","author":"Temtamy SA","year":"2000","journal-title":"Genet Couns"},{"key":"e_1_2_4_3_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.10484"},{"key":"e_1_2_4_4_1","first-page":"262","article-title":"Lenz microphthalmia syndrome with dental anomalies: A case report","volume":"70","author":"Ersin NK","year":"2003","journal-title":"J Dent 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