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Updated: May 13, 2026

A Strategy to Identify de Novo Mutations in Common Disorders such as Autism and Schizophrenia
Published on: June 15, 2011
A Novel De Novo EFNB1 Gene Mutation in a Mexican Patient with Craniofrontonasal Syndrome
M A Ramirez-Garcia1, O F Chacon-Camacho, C Leyva-Hernandez
1Genetics Department, UMAE Hospital de Pediatría, Centro Médico Nacional Siglo XXI, IMSS, Cuauhtémoc 330, Colonia Doctores, 06720 México, DF, Mexico.
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.
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