A homozygous is bp insertion in the human factor vu gene results in modification of a calcium binding site and reduced secretion/function

We have previously reported the first homozygous 15 bp in-frame insertion type mutation at nucleotide 10554, within the catalytic domain of the human factor VII (FVII) gene. This mutation arises as a result of a duplication of residues Leu213 to Asp217 (Leu, Ser, GIu, His, Asp), probably by slipped mispairing between 2 copies of a direct repeat (GCGAGCACGAC) separated by 4 bp. The mutation was identified in an Arabic child and results in a severe type I deficiency (FVII:C