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Case Reports in Genetics
Volume 2013, Article ID 349725, 4 pages
http://dx.doi.org/10.1155/2013/349725
Case Report

A Novel De Novo EFNB1 Gene Mutation in a Mexican Patient with Craniofrontonasal Syndrome

1Genetics Department, UMAE Hospital de Pediatría, Centro Médico Nacional Siglo XXI, IMSS, Cuauhtémoc 330, Colonia Doctores, 06720 México, DF, Mexico
2Genetics Department and Research Unit, Instituto de Oftalmología “Conde de Valenciana,” Chimalpopoca 14, Colonia Obrera, 06800 México, DF, Mexico
3Genetics Department, Hospital General Gaudencio González Garza, Centro Médico Nacional La Raza, IMSS, Calzada Vallejo, Colonia Azcapotzalco, 02990 México, DF, Mexico
4Department of Biochemistry, Faculty of Medicine, UNAM, México, DF, Mexico

Received 1 December 2012; Accepted 30 December 2012

Academic Editors: M. Chikri and M. Suri

Copyright © 2013 M. A. Ramirez-Garcia et al. This is an open access article distributed under the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.

Abstract

Craniofrontonasal syndrome (CNFS) is an X-linked disorder caused by mutations in the EFNB1 gene in which, paradoxically, heterozygous females are more severely affected than hemizygous males. In this paper, the clinical and molecular studies of a female subject with CFNS are described. A novel de novo c.473T>C (p.M158T) mutation in exon 3 of EFNB1 was demonstrated in this patient. The M158 residue of the Ephrin-B1 protein is highly conserved between species. Our results expand the mutational spectrum exposed by CNFS.