A novel compound heterozygous mutation (c.64G > A and c.506-1G > A) associated with congenital coagulation factor VII deficiency: a case report and literature review.

Abstract

Congenital factor VII (FVII) deficiency is a rare autosomal recessive bleeding disorder characterized by prolonged prothrombin time (PT) and reduced FVII coagulant activity (FVII: C). Here, we present the case of a middle-aged male patient with gastrointestinal bleeding, who exhibited prolonged PT and decreased FVII: C levels. Gene sequencing analysis revealed compound heterozygous mutations in the F7 gene: c.64G > A (p.V22I) and c.506-1G > A. Based on the laboratory results and gene sequencing, the patient was diagnosed as FVII deficiency. After adding recombinant activated FVII (rFVIIa) for several days, the laboratory indicators returned to normal and the bleeding symptoms were relieved. In subsequent validation studies, we also identified the c.506-1G > A mutation in his older sister and daughter. Importantly, this represents the first documented case where both mutations coexist concurrently. Additionally, our literature review reveals that approximately 50% of mutation types associated with congenital FVII deficiency are located on exon 9; however, there is no significant correlation between the reduction in FVII: C levels and severity of clinical symptoms based on EAHAD database analysis.