A novel EFNB1 mutation in a patient with craniofrontonasal syndrome and right hallux duplication

SEVEN M., Gezdirici A., Ulucan H., Karatas O. F., Yosunkaya E., Yuksel A., ...Daha Fazla

GENE, cilt.527, sa.2, ss.675-678, 2013 (SCI-Expanded) identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 527 Sayı: 2
  • Basım Tarihi: 2013
  • Doi Numarası: 10.1016/j.gene.2013.06.038
  • Dergi Adı: GENE
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Sayfa Sayıları: ss.675-678
  • Anahtar Kelimeler: Craniofrontonasal syndrome, EFNB1, Broad hallux, DIAPHRAGMATIC-HERNIA, GENE, MALES
  • Kocaeli Üniversitesi Adresli: Hayır

Özet

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.