Characterization of a Mutation in Exon 1 of the FVII Gene - a Case of RNA Editing?

摘要

FVII is a vitamin K-dependent coagulation protease essential for the initiation phase of normal hemostasis. Hereditary FVII deficiency is a rare autosomal recessive bleeding disorder with a variable phenotype. There is a poor correlation between FVII levels, clinical picture and the underlying genetic defect [1, 2]. In the Greifswald FVII deficiency study more than 126 different causative mutations have been characterized by sequence analysis up to now. Among them 67% were missense mutations, 6.3% nonsense mutations, 7% small deletions and 0.7% insertions. 8% of the mutations were located in the 5' flanking region of the FVII gene and 11% of the mutations affected splice sites [3, 4, 5, 6],We investigate here the effects of a G > A transition (g.64 G > A) [7] in the last nucleotide of FVII exon 1 characterized in two nonrelated patients of Turkish origin.