Assuntos

DNA/genética , Doenças Hereditárias Autoinflamatórias/genética , Mutação , Complexo de Endopeptidases do Proteassoma/genética , Pré-Escolar , Análise Mutacional de DNA , Feminino , Doenças Hereditárias Autoinflamatórias/metabolismo , Homozigoto , Humanos , Complexo Principal de Histocompatibilidade , Complexo de Endopeptidases do Proteassoma/metabolismo , Síndrome

RESUMO

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.