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Shimojima Keiko
Department School of Medicine(Tokyo Women's Medical University Hospital), School of Medicine Position Assistant Professor |
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| 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 |