Characterization of two novel splice site mutations in human factor VII gene causing severe plasma factor VII deficiency and bleeding diathesis

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Abstract
Summary. 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.