title: A Novel De Novo EFNB1 Gene Mutation in a Mexican Patient with Craniofrontonasal Syndrome.
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.
authors.affiliation: Genetics Department, UMAE Hospital de Pediatría, Centro Médico Nacional Siglo XXI, IMSS, Cuauhtémoc 330, Colonia Doctores, 06720 México, DF, Mexico.
authors.forename: M A
authors.initials: MA
authors.lastname: Ramirez-Garcia
authors.forename: O F
authors.initials: OF
authors.lastname: Chacon-Camacho
authors.forename: C
authors.initials: C
authors.lastname: Leyva-Hernandez
authors.forename: A
authors.initials: A
authors.lastname: Cardenas-Conejo
authors.forename: J C
authors.initials: JC
authors.lastname: Zenteno