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A novel de novo mutation within EFNB1 gene in a young girl with craniofrontonasal syndrome.

Abstract
Craniofrontonasal syndrome is mainly characterized by frontonasal dysplasia, telorbitism, a broad nasal root, and frequently a bifid nose and coronal craniosynostosis. Craniofrontonasal syndrome is an X-linked disorder with an unusual pattern of inheritance because heterozygous females are more severely affected than hemizygous males. The craniofrontonasal syndrome-causing gene is EFNB1, localized in the border region of chromosome Xq12 and Xq13.1, encoding for protein ephrin-B1. Here we aim to investigate the underlying genetic defect of a young girl with craniofrontonasal syndrome. The patient underwent surgical correction of her craniofacial deformities. Genetic analysis was carried out by polymerase chain reaction. Products of exon 2 of the EFNB1 gene were sequenced as well as digested with BpmI enzyme. A novel de novo missense mutation 373G>A was identified within the EFNB1 gene, leading to the replacement of glutamic acid at amino acid position 125 with lysine. The replacement of Glu125 with Lys, which lies within the G-H loop, part of the dimerization ligand-receptor interface, is expected to disrupt the interaction between the Eph receptor and ephrin B1 ligand, thus leading to craniofrontonasal syndrome.
AuthorsDespina Apostolopoulou, Alexander Stratoudakis, Angeliki Hatzaki, Olga S Kaxira, Kanaris P Panagopoulos, Panagoula Kollia, Vassiliki Aleporou
JournalThe Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial Association (Cleft Palate Craniofac J) Vol. 49 Issue 1 Pg. 109-13 (Jan 2012) ISSN: 1545-1569 [Electronic] United States
PMID21385071 (Publication Type: Case Reports, Journal Article)
Chemical References
  • EFNB1 protein, human
  • Ephrin-B1
Topics
  • Adolescent
  • Craniofacial Abnormalities (diagnostic imaging, genetics, surgery)
  • Ephrin-B1 (genetics)
  • Exons
  • Female
  • Humans
  • Imaging, Three-Dimensional
  • Mutation
  • Sequence Analysis, DNA
  • Syndrome
  • Tomography, X-Ray Computed

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