Novel heterozygous F7 gene mutation (c. C1286T) associated with congenital factor VII deficiency: A case report and literature review

Abstract

Congenital factor VII (FVII) deficiency (OMIM: 227500) is a rare autosomal recessive bleeding disease defined by FVII activity less than 70% of normal. 1 Its estimated prevalence is 1/500,000, 2,3 and its clinical manifestations range from asymptomatic to severe or even fatal bleeding.FVII is a coagulation factor and serine protease; when active, it initiates the extrinsic coagulation pathway. The percentage of FVII coagulation activity (FVII:C) determines whether FVII deficiency is

Hereditary coagulation factor VII deficiency caused by novel compound heterozygous mutations in a Chinese pedigree: A case report

“…The 6070+1G>A substitution occurs at the invariable dinucleotide splice site of intron 4, 13 and the frameshift 11125delC mutation, 14 and the 5886+5G>A transition 15 could generate a truncated or elongated FVII protein. Tang et al 16 reported a summary of the novel missense mutations in the FVII gene reported in recent years.…”