A Novel Missense Mutation Asp506Gly in Exon 13 of the F11 Gene in an Asymptomatic Korean Woman with Mild Factor XI Deficiency

Title
A Novel Missense Mutation Asp506Gly in Exon 13 of the F11 Gene in an Asymptomatic Korean Woman with Mild Factor XI Deficiency
Author(s)
조희순이종호 [이종호 ]현명수김화영김희진[김희진]
Keywords
ASHKENAZI JEWS; COAGULATION; ACTIVATION
Issue Date
201110
Publisher
KOREAN SOC LABORATORY MEDICINE
Citation
KOREAN JOURNAL OF LABORATORY MEDICINE, v.31, no.4, pp.290 - 293
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.
URI
http://hdl.handle.net/YU.REPOSITORY/24454http://dx.doi.org/10.3343/kjlm.2011.31.4.290
ISSN
1598-6535
Appears in Collections:
의과대학 > 진단검사의학교실 > Articles
의과대학 > 내과학교실 > Articles
의과대학 > 생화학.분자생물학교실 > Articles
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