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A novel missense mutation Asp506Gly in Exon 13 of the F11 gene in an asymptomatic Korean woman with mild factor XI deficiency.

ABSTRACT: Factor XI (FXI) deficiency is a rare autosomal recessive coagulation disorder most commonly found in Ashkenazi and Iraqi Jews, but it is also found in other ethnic groups. It is a trauma or surgery-related bleeding disorder, but spontaneous bleeding is rarely seen. The clinical manifestation of bleeding in FXI deficiency cases is variable and seems to poorly correlate with plasma FXI levels. The molecular pathology of FXI deficiency is mutation in the F11 gene on the chromosome band 4q35. We report a novel mutation of the F11 gene in an 18-year-old asymptomatic Korean woman with mild FXI deficiency. Pre-operative laboratory screen tests for lipoma on her back revealed slightly prolonged activated partial thromboplastin time (45.2 sec; reference range, 23.2-39.4 sec). Her FXI activity (35%) was slightly lower than the normal FXI activity (reference range, 50-150%). Direct sequence analysis of the F11 gene revealed a heterozygous A to G substitution in nucleotide 1517 (c.1517A>G) of exon 13, resulting in the substitution of aspartic acid with glycine in codon 506 (p.Asp506Gly). To the best of our knowledge, the Asp506Gly is a novel missense mutation, and this is the first genetically confirmed case of mild FXI deficiency in Korea.

SUBMITTER: Lee JH

PROVIDER: S-EPMC3190010 | biostudies-literature | 2011 Oct

REPOSITORIES: biostudies-literature

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A novel missense mutation Asp506Gly in Exon 13 of the F11 gene in an asymptomatic Korean woman with mild factor XI deficiency.

Lee Jong Ho JH Cho Hee Soon HS Hyun Myung Soo MS Kim Hwa-Young HY Kim Hee-Jin HJ

The Korean journal of laboratory medicine 20111003 4

Factor XI (FXI) deficiency is a rare autosomal recessive coagulation disorder most commonly found in Ashkenazi and Iraqi Jews, but it is also found in other ethnic groups. It is a trauma or surgery-related bleeding disorder, but spontaneous bleeding is rarely seen. The clinical manifestation of bleeding in FXI deficiency cases is variable and seems to poorly correlate with plasma FXI levels. The molecular pathology of FXI deficiency is mutation in the F11 gene on the chromosome band 4q35. We rep ...[more]

PMID: 22016685

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Project description:ObjectiveTo evaluate the association between F11 rs2289252, rs2036914 polymorphisms and the activity of clotting factor XI in post-trauma patients with fractures receiving routine anticoagulation therapy for deep venous thrombosis (DVT).MethodsA case-control study involving 110 consecutive post-trauma patients with fractures and DVT in our hospital was conducted from April 2014 to October 2015; these patients comprised a DVT group. Another 40 sex- and age-matched patients with fractures but without DVT served as controls. Additionally, 40 sex- and age-matched healthy people were chosen as a normal group. Venous blood samples (2 mL) were drawn from all participants and genomic DNA extracted from the leukocytes of the patients with fracture-related DVT, whose genotype and allele frequency distribution of F11 gene rs2089252 and rs2036914 single nucleotide polymorphism were then assessed by a sequencing method. The activity of factor XI was measured by a solidification method in all participants, including those in control and normal groups.ResultsThe activity of factor XI in patients with fracture-related DVT and F11 rs2089252 CT was 1.16 times that of those with CC genotypes (P < 0.0001), whereas in patients with fracture-related DVT and F11 rs2089252 TT genotypes it was 1.32 times that of those with CC genotypes (P < 0.0001), in patients with fracture-related DVT and F11 rs2089252 T allele it was 1.24 times that of those with C allele (P < 0.05), in patients with fracture-related DVT and F11 rs2036914 CC it was 1.35 times that of those with TT genotypes, in patients with fracture-related DVT and F11 rs2036914 CT genotypes it was 1.12 times that of those with TT genotypes (P < 0.05), and in patients with fracture-related DVT F11 and rs2036914 C allele it was 1.22 times that of those with T allele (P < 0.05). The activity of factor XI was significantly higher in the control than in the normal group (P < 0.05).ConclusionsHigh activity of factor XI indicates a risk of occurrence of DVT in post-trauma patients with fractures. F11 rs2089252 and rs2036914 (single nucleotide polymorphisms) are associated with activity of factors XI in such patients despite prophylaxis.

Dataset Information

A novel missense mutation Asp506Gly in Exon 13 of the F11 gene in an asymptomatic Korean woman with mild factor XI deficiency.

Publications

A novel missense mutation Asp506Gly in Exon 13 of the F11 gene in an asymptomatic Korean woman with mild factor XI deficiency.

Similar Datasets

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