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Results for “Factor VII Deficiency”

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PubMed2001

Severe factor VII deficiency with recurrent intracranial haemorrhages owing to double heterozygosity for a splice site mutation of an IVS4 and a novel nonsense mutation in exon 8 (Gln211-->Term).

Genetic analysis of a 10-month-old Japanese baby boy with recurrent intrathoracic bleeding, cerebral haemorrhages and gastrointestinal bleeding secondary to severe factor VII (FVII) deficiency revealed evidence of two distinct mutations of FVII: a splice site mutation of G-->A at nucleotide 6071 in the IVS4 splice site and a novel nonsense mutation (Gln211-->Term) in exon 8. His bleeding was difficult to control without prophylactic infusion of FVII. We detected a heterozygous splice site mutation of the IVS4 in his mother and a heterozygous nonsense mutation in exon 8 (Gln211-->Term) in his father. The parents' FVII levels are both 50% of normal controls. The FVII:C in plasma from the proband was < 1.5% of normal controls. FVII:antigen (Ag) was < 1% of normal controls, using a monoclonal antibody (mAb) hVII-B101/1 that specifically reacts with FVII epidermal growth factor 1 (EGF-1), and 5% of normal controls, using a rabbit polyclonal antibody against human FVII. After immunoadsorption with mAb hVII-B101/B1-Sepharose 4B, FVII levels of both the proband and his mother were 5% of normal controls; after immunoadsorption the FVII levels of normal subjects were < 1%. We hypothesize that secretion of a small amount of dysfunctional FVII lacking EGF-1 into the circulation accounts for this observation.

Codon, Nonsense↗
PubMed2003

Complexity of the genetic contribution to factor VII deficiency in two Spanish families: clinical and biological implications.

BACKGROUND AND OBJECTIVES: Although many F7 DNA variants have been described to be associated with alterations in factor VII (FVII) levels, the correlation of functional levels of FVII with disease (i.e. bleeding) is highly variable indicating that other factors are likely involved in producing this phenotype. DESIGN AND METHODS: We studied two unrelated Spanish families, identified from two asymptomatic propositi with FVII:C levels lower than 1% and 3%. Family members showed a wide range of FVII:C levels. Amplification and direct DNA sequencing of the F7 (promoter, exons, 3'-UTR and a large proportion of introns) identified the genetic variants involved. RESULTS: We characterized 3 mutations in the F7 coding region (homozygous Q100R in one patient, and double heterozygosity for M298I and G331S in another patient). We also found 16 new DNA polymorphisms. The high variability of FVII levels in family members with the same mutation shows that the inheritance of FVII phenotypes is extremely complex and suggests that polymorphisms might play an important role in modulating FVII levels, and ensuring hemostatic balance under pathologic conditions. INTERPRETATION AND CONCLUSIONS: These results highlight the importance of a concerted effect of multiple genetic factors in determining FVII levels. Since there is evidence that FVII levels constitute a risk factor for coronary heart disease and considering the importance of F7 DNA polymorphisms in determining FVII levels, further analyses of these polymorphisms should yield information to aid the understanding of the quantitative variation in FVII levels and the relative genetic risk for cardiovascular disease in the general population.

3' Untranslated Regions↗