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

作者：Apostolopoulou Despina^*; Stratoudakis Alexander; Hatzaki Angeliki; Kaxira Olga S; Panagopoulos Kanaris P; Kollia Panagoula; Aleporou Vassiliki

来源：Cleft Palate-Craniofacial Journal, 2012, 49(1): 109-113.

DOI：10.1597/10-247

• CFNS
• coronal craniosynostosis
• craniofacial reconstruction
• EFNB1 gene
• ephrins
• missense mutation
• telorbitism

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%26gt;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.

• 出版日期2012-1