=====Craniofrontonasal syndrome=====
Craniofrontonasal syndrome (CFNS) 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 a 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
((Yamamoto T, Igarashi N, Shimojima K, Sangu N, Sakamoto Y, Shimoji K, Niijima
S. Use of targeted next-generation sequencing for molecular diagnosis of
craniosynostosis: identification of a novel de novo mutation of EFNB1. Congenit
Anom (Kyoto). 2015 Jul 24. doi: 10.1111/cga.12123. [Epub ahead of print] PubMed
PMID: 26208246.
))