Direct sequencing analyses were performed on FGA, FGB, and FGG genes to confirm hypodysfibrinogenemia and on the protein C gene to confirm protein C deficiency.
We found a novel hypodysfibrinogenemia designated Tsukuba I caused by compound heterozygous nucleotide deletions with FGG c.1129+62_65 del AATA and FGG c.1299+4 del A on different alleles.