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: Keren Borensztajn, Ouerdia Chafa, Martine Alhenc-Gelas, Siham Salha, Abderrezak Reghis, Anne-Marie Fischer, Jacqueline Tapon-Bretaudière
• Journal: British journal of haematology (Br J Haematol) Vol. 117 Issue 1 Pg. 168-71 (Apr 2002) ISSN: 0007-1048 [Print] England
• PMID: 11918550 (Publication Type: Case Reports, Journal Article, Research Support, Non-U.S. Gov't)

Chemical References

• Factor VII

Topics

• 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