{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,18]],"date-time":"2026-10-18T00:40:19Z","timestamp":1792284019143,"version":"4.4.0"},"reference-count":9,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2014,10,23]],"date-time":"2014-10-23T00:00:00Z","timestamp":1414022400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Congenital Anomalies"],"published-print":{"date-parts":[[2014,11]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>We present a case of a patient whose <jats:styled-content style=\"fixed-case\"><jats:italic>L1CAM<\/jats:italic><\/jats:styled-content> gene in <jats:styled-content style=\"fixed-case\">X<\/jats:styled-content>\u2010chromosome has a <jats:styled-content style=\"fixed-case\">C924T<\/jats:styled-content> transition. Her first son's ventriculomegaly was prenatally detected. A mature infant was born, his head circumference was large, and thumbs were bilaterally adducted. <jats:styled-content style=\"fixed-case\">X<\/jats:styled-content>\u2010linked hydrocephalus (<jats:styled-content style=\"fixed-case\">XLH<\/jats:styled-content>) was suspected. The <jats:styled-content style=\"fixed-case\">DNA<\/jats:styled-content> examination revealed that both her and boy's <jats:italic><jats:styled-content style=\"fixed-case\">LICAM<\/jats:styled-content><\/jats:italic> gene had a <jats:styled-content style=\"fixed-case\">C924T<\/jats:styled-content> transition. She became pregnant 5 years later and amniocentesis was performed. The results of cytogenetic analysis revealed that the fetus was female. She continued her pregnancy and delivered a healthy girl. She again became pregnant 3 years later. The chromosomal analysis revealed that the fetus was male. Fetal <jats:styled-content style=\"fixed-case\">DNA<\/jats:styled-content> analysis determined that the fetus had the inherited mutation. She chose to terminate the pregnancy. A <jats:styled-content style=\"fixed-case\">C924T<\/jats:styled-content> mutation can be disease causing for <jats:styled-content style=\"fixed-case\">XLH<\/jats:styled-content>, and the detection of this mutation would aid in genetic counseling for the prenatal diagnosis of <jats:styled-content style=\"fixed-case\">XLH<\/jats:styled-content>.<\/jats:p>","DOI":"10.1111\/cga.12069","type":"journal-article","created":{"date-parts":[[2014,7,8]],"date-time":"2014-07-08T11:18:56Z","timestamp":1404818336000},"page":"243-245","source":"Crossref","is-referenced-by-count":11,"title":["Prenatal molecular diagnosis of <scp>X<\/scp>\u2010linked hydrocephalus via a silent <scp>C924T<\/scp> mutation in the <scp><i>L1CAM<\/i><\/scp> gene"],"prefix":"10.1111","volume":"54","author":[{"given":"Takehiro","family":"Serikawa","sequence":"first","affiliation":[{"name":"Department of Obstetrics and Gynecology Niigata University Medical and Dental Hospital  Niigata Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kenichi","family":"Nishiyama","sequence":"additional","affiliation":[{"name":"Department of Neurosurgery Niigata University Medical and Dental Hospital  Niigata Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jun","family":"Tohyama","sequence":"additional","affiliation":[{"name":"Department of Bioscience Medical Research Center Niigata University Medical and Dental Hospital  Niigata Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ryushi","family":"Tazawa","sequence":"additional","affiliation":[{"name":"Department of Bioscience Medical Research Center Niigata University Medical and Dental Hospital  Niigata Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kiyoe","family":"Goto","sequence":"additional","affiliation":[{"name":"Department of Bioscience Medical Research Center Niigata University Medical and Dental Hospital  Niigata Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yoko","family":"Kuriyama","sequence":"additional","affiliation":[{"name":"Department of Bioscience Medical Research Center Niigata University Medical and Dental Hospital  Niigata Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kazufumi","family":"Haino","sequence":"additional","affiliation":[{"name":"Department of Perinatal Intensive Care Center Niigata University Medical and Dental Hospital  Niigata Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yonehiro","family":"Kanemura","sequence":"additional","affiliation":[{"name":"Division of Regenerative Medicine Institute for Clinical Research Osaka National Hospital, National Hospital Organization  Osaka Japan"},{"name":"Department of Neurosurgery Osaka National Hospital, National Hospital Organization  Osaka Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mami","family":"Yamasaki","sequence":"additional","affiliation":[{"name":"Department of Pediatric Neurosurgery Takatsuki General Hospital  Takatsuki Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Koh","family":"Nakata","sequence":"additional","affiliation":[{"name":"Department of Bioscience Medical Research Center Niigata University Medical and Dental Hospital  Niigata Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Koichi","family":"Takakuwa","sequence":"additional","affiliation":[{"name":"Department of Perinatal Intensive Care Center Niigata University Medical and Dental Hospital  Niigata Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Takayuki","family":"Enomoto","sequence":"additional","affiliation":[{"name":"Department of Obstetrics and Gynecology Niigata University Medical and Dental Hospital  Niigata Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2014,10,23]]},"reference":[{"key":"e_1_2_5_2_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00401-013-1146-1"},{"key":"e_1_2_5_3_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.35.6.456"},{"key":"e_1_2_5_4_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.35244"},{"issue":"5","key":"e_1_2_5_5_1","first-page":"403","article-title":"Molecular mechanisms and neuroimaging criteria for severe L1 syndrome with X\u2010linked hydrocephalus","volume":"105","author":"Kanemura Y","year":"2006","journal-title":"J 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