{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,8,3]],"date-time":"2025-08-03T22:49:46Z","timestamp":1754261386230},"reference-count":30,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2016,3,4]],"date-time":"2016-03-04T00:00:00Z","timestamp":1457049600000},"content-version":"vor","delay-in-days":3,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"name":"Ministry of Health, Labor, and Welfare, Japan"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Congenital Anomalies"],"published-print":{"date-parts":[[2016,3]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Craniofrontonasal syndrome (<jats:styled-content style=\"fixed-case\">CFNS<\/jats:styled-content>; <jats:styled-content style=\"fixed-case\">MIM<\/jats:styled-content>#304110) is characterized by asymmetric facial features with hypertelorism and a broad bifid nose due to synostosis of the coronal suture. <jats:styled-content style=\"fixed-case\">CFNS<\/jats:styled-content> shows a unique <jats:styled-content style=\"fixed-case\">X<\/jats:styled-content>\u2010linked inheritance pattern (most affected patients are female and obligate male carriers exhibit a mild manifestation or no typical features at all) associated with the ephrin\u2010<jats:styled-content style=\"fixed-case\">B<\/jats:styled-content>1 gene (<jats:styled-content style=\"fixed-case\"><jats:italic>EFNB<\/jats:italic><\/jats:styled-content><jats:italic>1<\/jats:italic>) located in the <jats:styled-content style=\"fixed-case\">X<\/jats:styled-content>q13.1 region. In this study, we performed targeted, massively parallel sequencing using a next\u2010generation sequencer, and identified a novel <jats:styled-content style=\"fixed-case\"><jats:italic>EFNB<\/jats:italic><\/jats:styled-content><jats:italic>1<\/jats:italic> mutation, c.270_271del<jats:styled-content style=\"fixed-case\">CA<\/jats:styled-content>, in a Japanese female patient with craniosynostosis. Because subsequent Sanger sequencing identified no mutation in either parent, this mutation was determined to be <jats:italic>de novo<\/jats:italic> in origin. After obtaining molecular diagnosis, a retrospective clinical evaluation confirmed the clinical diagnosis of <jats:styled-content style=\"fixed-case\">CFNS<\/jats:styled-content> in this patient. Comprehensive molecular diagnosis using a next\u2010generation sequencer would be beneficial for early diagnosis of the patients with undiagnosed craniosynostosis.<\/jats:p>","DOI":"10.1111\/cga.12123","type":"journal-article","created":{"date-parts":[[2015,7,24]],"date-time":"2015-07-24T11:06:10Z","timestamp":1437735970000},"page":"91-93","source":"Crossref","is-referenced-by-count":8,"title":["Use of targeted next\u2010generation sequencing for molecular diagnosis of craniosynostosis: Identification of a novel <i>de novo<\/i> mutation of <scp><i>EFNB<\/i><\/scp><i>1<\/i>"],"prefix":"10.1111","volume":"56","author":[{"given":"Toshiyuki","family":"Yamamoto","sequence":"first","affiliation":[{"name":"Tokyo Women's Medical University Institute for Integrated Medical Sciences  Tokyo Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Naru","family":"Igarashi","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Juntendo University Nerima Hospital  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