シモジマ　ケイコ   Shimojima Keiko   下島　圭子    所属   医学部 医学科（東京女子医科大学病院）    職種   講師
論文種別	症例報告
言語種別	英語
査読の有無	査読あり
表題	Use of targeted next-generation sequencing for molecular diagnosis of craniosynostosis: identification of a novel de novo mutation of EFNB1.
掲載誌名	正式名：Congenital Anomalies ISSNコード：09143505
掲載区分	国外
巻・号・頁	56(2),pp.91-93
著者・共著者	Yamamoto T, Igarashi N, Shimojima K, Sangu N, Sakamoto Y, Shimoji K, Niijima S.
発行年月	2016/03
概要	Craniofrontonasal syndrome (CFNS; MIM#304110) is characterized by asymmetric facial features with hypertelorism and a broad bifid nose due to synostosis of the coronal suture. CFNS shows a unique X-linked 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-B1 gene (EFNB1) located in the Xq13.1 region. In this study, we performed targeted, massively parallel sequencing using a next-generation sequencer, and identified a novel EFNB1 mutation, c.270_271delCA, in a Japanese female patient with craniosynostosis. Because subsequent Sanger sequencing identified no mutation in either parent, this mutation was determined to be de novo in origin. After obtaining molecular diagnosis, a retrospective clinical evaluation confirmed the clinical diagnosis of CFNS in this patient. Comprehensive molecular diagnosis using a next-generation sequencer would be beneficial for early diagnosis of the patients with undiagnosed craniosynostosis.
DOI	10.1111/cga.12123
PMID	26208246