No abstract available.
Adolescent ; Asian Continental Ancestry Group/*genetics ; Child ; Exons ; Factor XI/*genetics ; Factor XI Deficiency/*diagnosis/genetics ; Female ; Genetic Testing ; Genotype ; Heterozygote ; Humans ; Male ; Mutation, Missense ; Partial Thromboplastin Time ; Pedigree ; Republic of Korea ; Sequence Analysis, DNA

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.
Adolescent ; Amino Acid Substitution ; Asian Continental Ancestry Group/*genetics ; Base Sequence ; Chromosomes, Human, Pair 4 ; Exons ; Factor XI Deficiency/blood/diagnosis/*genetics ; Female ; Heterozygote ; Humans ; Molecular Sequence Data ; Mutation, Missense ; Protein Structure, Tertiary ; Republic of Korea ; Sequence Analysis, DNA