title: A novel EFNB1 mutation in a patient with craniofrontonasal syndrome and right hallux duplication.
abstract: Craniofrontonasal syndrome (CFNS, MIM #304110) is a rare X-linked dominant developmental disorder that shows paradoxically greater severity in affected females than in affected males. Our female patient with frontonasal dysplasia, craniosynostosis and additional malformations was consistent with CFNS. EFNB1, which encodes a member of the ephrin family of transmembrane ligands for Eph receptor tyrosine kinases, is the only gene in which mutation is known to cause CFNS. Here, we describe 402T>C, a novel de novo mutation on EFNB1. This mutation results in substitution of highly conserved isoleucine at 134th residue to threonine.
authors.affiliation: Istanbul University, Cerrahpasa Medical School, Department of Medical Genetics, Fatih, Istanbul, Turkey.
authors.forename: Mehmet
authors.initials: M
authors.lastname: Seven
authors.forename: Alper
authors.initials: A
authors.lastname: Gezdirici
authors.forename: Hakan
authors.initials: H
authors.lastname: Ulucan
authors.forename: Omer Faruk
authors.initials: OF
authors.lastname: Karatas
authors.forename: Elif
authors.initials: E
authors.lastname: Yosunkaya
authors.forename: Adnan
authors.initials: A
authors.lastname: Yuksel
authors.forename: Mustafa
authors.initials: M
authors.lastname: Ozen
mesh_terms: D019465:Craniofacial Abnormalities / Q000235:genetics*; D036387:Ephrin-B1 / Q000235:genetics*; D005260:Female; D005530:Foot Deformities / Q000235:genetics*; D006801:Humans; D007223:Infant; D009154:Mutation
chemical_list: C484288:EFNB1 protein, human; D036387:Ephrin-B1
keywords: 3D CT scan; ACTH; Adrenocorticotropic hormone; Broad hallux; CFNS; Craniofrontonasal syndrome; EFNB1; HGMD; Human Gene Mutation Database; IPD; Interpupillary distance; OCD; Outer canthal distance; SIFT; Sorting Intolerant From Tolerant; Three-dimensional computed tomography scan