A novel frameshift mutation in exon 10 of the kininogen gene found in a Japanese family with isolated HK deficiency. (A) Pedigree of the family with isolated HK deficiency. Arrow indicates the proband; filled symbol, homozygous isolated HK deficiency; half-filled symbols, heterozygous isolated HK deficiency; symbols with diagonal line, deceased family members; and open symbols, unexplored subjects. (B) Identification of a base-pair insertion within exon 10 of the kininogen gene. The proband exhibited a homozygous base pair insertion of a cytidine at nucleotide position 1217 in exon 10. The proband's father, mother, and brother were heterozygous for the same defect.