A novel frameshift mutation in the fibrinogen γC terminal region, FGG c.1169_1170 del AT, leading to hypofibrinogenemia

- We encountered a novel hypofibrinogenemia patient.
- The patient had a heterozygous nucleotide deletion with FGG c.1169_1170 del AT.
- This resulted in a frameshift (FS) mutation between codons 364 and 422 in the γ-chain.
- This also resulted in a FS mutation between codons 364 and 418 in the γ'-chain.
- These FS mutations did not synthesize the variant fibrinogen in CHO cell lines.