Congenital hypofibrinogenemia with a novel mutation BβCys76Phe

Abstract

Objective : Identified genetic mutation in the patient with unexplained decreased fibrinogen activity. Methods : We conducted a detailed examination of the patient’s fibrinogen activity level, antigen level, and genomic sequence. Results : The patient’s fibrinogen activity level was 80 mg / dL and the antigen level was 131 mg / dL. Upon sequencing of the fibrinogen gene, a novel heterozygous c.Bβ227G > T mutation was detected in Bβ-chain, which results in the cysteine residue at position 76 in exon 3 being converted to a phenylalanine residue. Conclusions : This mutation reduces fibrinogen activity and antigen levels, but the pathophysiology of this mutation remains unclear. J. Med. Invest. 72 : 182-184, February, 2025