Identification and expression analysis of a novel intragenic EFNB1 mutation causing craniofrontonasal syndrome
Por:
Chacon-Camacho O.F., Arce-Gonzalez R., Villegas-Ruiz V., Pelcastre-Luna E., Uría-Gómez C.E., Granillo-Alvarez M., Zenteno J.C.
Publicada:
1 ene 2014
Resumen:
Craniofrontonasal syndrome (CFNS) is an X-linked disorder caused by mutations in the EFNB1 gene and characterized by distinctive craniofacial and digital malformations. In contrast with most X-linked traits, female patients with CFNS display a more severe phenotype than males. In this report, the clinical, molecular and RNA expression analyses of a female subject with CFNS are described. A novel c.445_449delGAGGG deletion in exon 3 of EFNB1 was demonstrated in this patient. To assess the effect of this novel mutation at the transcript level, the expression of EFNB1 mRNA was studied by quantitative RT-PCR. To our knowledge, this is the first time that anEFNB1 transcript carrying a truncatingmutation in exon 3 is demonstrated to undergo degradation by nonsense-mediated mRNA decay. Our results expand the mutational spectrum of CFNS and add to the functional consequences of truncating EFNB1 mutations. © 2013 The Authors.
Filiaciones:
Department of Genetics, Institute of Ophthalmology Conde de Valenciana, Mexico City, Mexico
Laboratorio de Genética, Facultad de Medicina, UAEM, Toluca, State of Mexico, Mexico
Department of Obstetrics and Gynaecology, HGZ No. 76, Instituto Mexicano del Seguro Social, State of Mexico, Mexico
Department of Biochemistry, Faculty of Medicine, National Autonomous University of Mexico (UNAM), Mexico City, Mexico
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