A Novel Mutation in EFNB1, Probably with a Dominant Negative Effect, Underlying Craniofrontonasal Syndrome

@article{Shotelersuk2006ANM,
  title={A Novel Mutation in EFNB1, Probably with a Dominant Negative Effect, Underlying Craniofrontonasal Syndrome},
  author={Vorasuk Shotelersuk and Pichit Siriwan and Surasawadee Ausavarat},
  journal={The Cleft Palate-Craniofacial Journal},
  year={2006},
  volume={43},
  pages={152 - 154}
}
Craniofrontonasal syndrome (CFNS) is an X-linked disorder whose main clinical manifestations include coronal craniosynostosis and frontonasal dysplasia. Very recently, CFNS was shown to be caused by mutations in EFNB1 encoding ephrin-B1, and 20 mutations have been described. We report a Thai woman with CFNS, in whom a novel mutation was discovered: c.685_686insG, in exon 5 of EFNB1. It is the first insertion and the most 3′ point mutation in EFNB1 reported to date. The mutation is expected to… 

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