A novel compound heterozygous mutation of F7 gene identified in an
infant with hereditary factor VII deficiency and literature review
Hereditary factor VII (FVII) deficiency is a rare autosomal recessive
disorder, characterized by decreasing the coagulation activity of FVII
in plasma and heterogeneous with bleeding in different degrees.
Hereditary factor VII deficiency is usually caused by missense mutations
in the F7 gene, which may affect the structure and function of FVII.
Here we present a case of hereditary factor VII deficiency in an infant
who was found to have a prolonged prothrombin time（PT）and 2.0% of
FVII activity. Molecular studies revealed a novel compound heterozygous
mutation of the F7 gene, which confirmed the diagnosis of hereditary
factor VII deficiency.