YAMAMOTO Toshiyuki    Department   School of Medicine(Tokyo Women's Medical University Hospital), School of Medicine    Position   Professor
Article types	Case report
Language	English
Peer review	Peer reviewed
Title	Use of targeted next-generation sequencing for molecular diagnosis of craniosynostosis: identification of a novel de novo mutation of EFNB1.
Journal	Formal name：Congenital Anomalies ISSN code：09143505
Domestic / Foregin	Foregin
Volume, Issue, Page	56(2),pp.91-93
Author and coauthor	Yamamoto T, Igarashi N, Shimojima K, Sangu N, Sakamoto Y, Shimoji K, Niijima S.
Publication date	2016/03
Summary	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