Publication: A novel EFNB1 mutation in a patient with craniofrontonasal syndrome and right hallux duplication
No Thumbnail Available
Date
2013-09-01T00:00:00Z
Authors
Authors
SEVEN, Mehmet
Gezdirici, Alper
Ulucan, Hakan
Karatas, Omer Faruk
Yosunkaya, Elif
Yuksel, Adnan
Ozen, Mustafa
Journal Title
Journal ISSN
Volume Title
Publisher
Metrics
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 402 T > C, a novel de novo mutation on EFNB1. This mutation results in substitution of highly conserved isoleucine at 134th residue to threonine. (C) 2013 Elsevier B.V. All rights reserved.
Description
Keywords
Citation
SEVEN M., Gezdirici A., Ulucan H., Karatas O. F. , Yosunkaya E., Yuksel A., Ozen M., -A novel EFNB1 mutation in a patient with craniofrontonasal syndrome and right hallux duplication-, GENE, cilt.527, ss.675-678, 2013