EFNB1 mutation at the ephrin ligand‐receptor dimerization interface in a patient with craniofrontonasal syndrome

  title={EFNB1 mutation at the ephrin ligand‐receptor dimerization interface in a patient with craniofrontonasal syndrome},
  author={Chiharu Torii and Kosuke Izumi and Hideo Nakajima and Takao Takahashi and Kenjiro Kosaki},
  journal={Congenital Anomalies},
ABSTRACT  Craniofrontonasal syndrome (CFNS) is characterized by craniosynostosis, hypertelorism, a broad nasal tip and occasionally cleft lip and palate, and is caused by a mutation in the ephrin‐B1 gene (EFNB1). The study of naturally occurring human EFNB1 mutations offers a unique opportunity to better define the critical portion within the ephrin domain that is essential for the function of EFNB1 protein in craniofacial development. Here, we report a CFNS patient with a novel EFNB1 missense… 

A Novel de Novo Mutation Within EFNB1 Gene in a Young Girl with Craniofrontonasal Syndrome

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It is concluded that mutations in EFNB1 cause CFNS, a X-linked craniofacial disorder with an unusual manifestation pattern, in which affected females show multiple skeletal malformations whereas the genetic defect causes no or only mild abnormalities in male carriers.

Mutations of ephrin-B1 (EFNB1), a marker of tissue boundary formation, cause craniofrontonasal syndrome.

  • S. TwiggR. Kan A. Wilkie
  • Biology, Medicine
    Proceedings of the National Academy of Sciences of the United States of America
  • 2004
It is proposed that in heterozygous females, patchwork loss of ephrin-B1 disturbs tissue boundary formation at the developing coronal suture, whereas in males deficient in ephin-B 1, an alternative mechanism maintains the normal boundary.

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Molecular characterization of a family of ligands for eph‐related tyrosine kinase receptors.

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