Ozkan, Didem TorunSarper, NazanAkar, NejatTıbbi Laboratuvar Teknikleri / Medical Laboratory Techniques2024-05-252024-05-25202010001-57921421-966210.1159/0005051742-s2.0-85083660570https://doi.org/10.1159/000505174https://hdl.handle.net/20.500.14517/2196Introduction: Congenital afibrinogenemia is a rare autosomal recessive disorder characterized by bleeding that varies from mild to severe and by complete absence or extremely low levels of plasma and platelet fibrinogen. Hypofibrinogenemia is characterized by fibrinogen levels Objective: In this study, we analyzed fibrinogen beta chain gene mutations in Turkish afibrinogenemia and hypofibrinogenemia patients. Methods: We evaluated 20 afibrinogenemia and hypofibrinogenemia patients and 80 healthy controls. We have sequenced all exons of the FGB gene using the DNA isolated from the peripheral blood samples of patients and controls. Results and Conclusion: We found a nonsense mutation in exon 4 at nucleotide 630 that encoded serine amino acid, and in the same exon a missense mutation of T to C at nucleotide 647, resulting in a transition from leucine to proline (p.L198P) in a child with hypofibrinogenemia. These mutations have been shown for the first time in the same patient of Turkish descent. Furthermore, there was a novel heterozygous guanine-to-adenine nucleotide change in exon 3. This caused the change of arginine amino acid to threonine amino acid at position 136 (p.A136T) in a protein, which has not been described in the literature before.eninfo:eu-repo/semantics/closedAccessCongenital afibrinogenemiaHypofibrinogenemiaFibrinogen beta chain gene mutationsArticleQ3Q21436529532WOS:00059519070000532289806