Cys482Trp Missense Mutation in the Coagulation Factor XI Gene (F11) in a Korean Patient with Factor XI Deficiency
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Dear Editor, Coagulation factor XI (FXI) is a member of the “contact path- way” and is activated either intrinsically by coagulation factor XII (FXII) or by thrombin, which is produced by an extrinsic path- way and plays an important role in hemostasis [1]. Factor XI de- ficiency, also known as hemophilia C, is a predominantly auto- somal recessive genetic bleeding disorder that was first reported in 1953 [2] and was found to be particularly prevalent in the Ashkenazi Jewish population [3]. The main clinical manifesta- tion is damage-related or post-operational bleeding in the buc- cal cavity, nasal cavity, tonsils, or urinary tract [4]. The F11 gene encodes the FXI protein, and mutations in the F11 gene have been found in patients with FXI deficiency. The F11 gene, lo- cated on the long arm of chromosome 4 (4q35) with a genome size of 23 kb, consists of 15 exons and 14 introns [5]. Exon 1 encodes the 5’-untranslated region, exon 2 encodes the signal peptide, and exons 3-15 are the region for encoding factor FXI protein [6]. FXI is synthesized as a homodimeric protein, and each FXI monomer consists of 4 N-terminal “apple domains” (A1-A4) and a C-terminal trypsin-like catalytic domain.
Abstract
Dear Editor, Coagulation factor XI (FXI) is a member of the “contact path- way” and is activated either intrinsically by coagulation factor XII (FXII) or by thrombin, which is produced by an extrinsic path- way and plays an important role in hemostasis [1]. Factor XI de- ficiency, also known as hemophilia C, is a predominantly auto- somal recessive genetic bleeding disorder that was first reported in 1953 [2] and was found to be particularly prevalent in the Ashkenazi Jewish population [3]. The main clinical manifesta- tion is damage-related or post-operational bleeding in the buc- cal cavity, nasal cavity, tonsils, or urinary tract [4]. The F11 gene encodes the FXI protein, and mutations in the F11 gene have been found in patients with FXI deficiency. The F11 gene, lo- cated on the long arm of chromosome 4 (4q35) with a genome size of 23 kb, consists of 15 exons and 14 introns [5]. Exon 1 encodes the 5’-untranslated region, exon 2 encodes the signal peptide, and exons 3-15 are the region for encoding factor FXI protein [6]. FXI is synthesized as a homodimeric protein, and each FXI monomer consists of 4 N-terminal “apple domains” (A1-A4) and a C-terminal trypsin-like catalytic domain.
참고문헌 (18)
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