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

Br J Haematol. 2002 Apr;117(1):168-71. doi: 10.1046/j.1365-2141.2002.03397.x.


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.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adolescent
  • Algeria
  • Base Sequence
  • Case-Control Studies
  • DNA Mutational Analysis*
  • Factor VII / genetics*
  • Factor VII Deficiency / genetics*
  • Female
  • Gene Deletion
  • Homozygote
  • Humans
  • Infant
  • Male
  • Molecular Sequence Data
  • Mutation, Missense


  • Factor VII