A novel compound heterozygous mutation of F7 gene identified in an infant with hereditary factor VII deficiency and literature review

Abstract

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.