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

الملخص EN

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.