Annals of Laboratory Medicine
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31(04) 290-293
A Novel Missense Mutation Asp506Gly in Exon 13 of the F11 Gene in an Asymptomatic Korean Woman with Mild Factor XI Deficiency
Jong Ho Lee, M.D.1, Hee Soon Cho, M.D.1, Myung Soo Hyun, M.D.2, Hwa-Young Kim, Ph.D.3, and Hee-Jin Kim, M.D.4
Departments of Laboratory Medicine1, Internal Medicine2, and Biochemistry & Molecular Biology3, Yeungnam University College of Medicine, Daegu; Department of Laboratory Medicine & Genetics4, Samsung Medical Center, Sungkyunkwan University College of Medicine, Seoul, Korea
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.
Ann Lab Med 2011 Oct; 31(04) 290-293
Keyword : Factor XI deficiency, F11 gene, Missense mutation