title: Characterization of two novel splice site mutations in human factor VII gene causing severe plasma factor VII deficiency and bleeding diathesis.
abstract: The molecular basis of severe type I factor (F)VII deficiency was investigated in two Algerian patients. One patient, a 13-year-old-girl who has suffered from severe bleeding since birth, was homozygous for a 7-bp deletion (nt 7774-7780) and a 251-bp insertion (nt 7773-7781) of mitochondrial origin, in IVS 4 acceptor splice site. The other patient, an infant who died from massive intracranial haemorrhage, was homozygous for a transversion in the IVS 7 donor splice site (T9726+2-->G) and a missense mutation in exon 8 (G10588-->A; Arg224-->Gln). In both cases, the deleterious mutations are probably the splice site junction abnormalities impairing mRNA processing. These three lesions have not yet been reported.
authors.affiliation: INSERM U428, Faculté des Sciences Pharmaceutiques et Biologiques, Paris, France.
authors.forename: Keren
authors.initials: K
authors.lastname: Borensztajn
authors.forename: Ouerdia
authors.initials: O
authors.lastname: Chafa
authors.forename: Martine
authors.initials: M
authors.lastname: Alhenc-Gelas
authors.forename: Siham
authors.initials: S
authors.lastname: Salha
authors.forename: Abderrezak
authors.initials: A
authors.lastname: Reghis
authors.forename: Anne-Marie
authors.initials: AM
authors.lastname: Fischer
authors.forename: Jacqueline
authors.initials: J
authors.lastname: Tapon-Bretaudière
mesh_terms: D000293:Adolescent; D000462:Algeria; D001483:Base Sequence; D016022:Case-Control Studies; D004252:DNA Mutational Analysis; D005167:Factor VII / Q000235:genetics*; D005168:Factor VII Deficiency / Q000235:genetics*; D005260:Female; D017353:Gene Deletion; D006720:Homozygote; D006801:Humans; D007223:Infant; D008297:Male; D008969:Molecular Sequence Data; D020125:Mutation, Missense
chemical_list: D005167:Factor VII