title: Identification and expression analysis of a novel intragenic EFNB1 mutation causing craniofrontonasal syndrome.
abstract: 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 an EFNB1 transcript carrying a truncating mutation 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.
authors.affiliation: Department of Genetics, Institute of Ophthalmology "Conde de Valenciana", Mexico City, Mexico.
authors.forename: Oscar F
authors.initials: OF
authors.lastname: Chacon-Camacho
authors.affiliation: Department of Genetics, Institute of Ophthalmology "Conde de Valenciana", Mexico City, Mexico.
authors.forename: Rocio
authors.initials: R
authors.lastname: Arce-Gonzalez
authors.affiliation: Department of Genetics, Institute of Ophthalmology "Conde de Valenciana", Mexico City, Mexico.
authors.forename: Vanessa
authors.initials: V
authors.lastname: Villegas-Ruiz
authors.affiliation: Department of Genetics, Institute of Ophthalmology "Conde de Valenciana", Mexico City, Mexico.
authors.forename: Erika
authors.initials: E
authors.lastname: Pelcastre-Luna
authors.affiliation: Laboratorio de Genética, Facultad de Medicina, UAEM, Toluca, State of Mexico, Mexico.
authors.forename: Conrado E
authors.initials: CE
authors.lastname: Uría-Gómez
authors.affiliation: Department of Obstetrics and Gynaecology, HGZ No. 76, Instituto Mexicano del Seguro Social, State of Mexico, Mexico.
authors.forename: Mariella
authors.initials: M
authors.lastname: Granillo-Alvarez
authors.affiliation: Department of Genetics, Institute of Ophthalmology "Conde de Valenciana", Mexico City, Mexico ; Department of Biochemistry, Faculty of Medicine, National Autonomous University of Mexico (UNAM), Mexico City, Mexico.
authors.forename: Juan C
authors.initials: JC
authors.lastname: Zenteno
keywords: CFNS; Craniofrontonasal syndrome; EFNB1; Nonsense-mediated decay