A Novel Missense Mutation Asp506Gly in Exon 13 of the F11 Gene in an Asymptomatic Korean Woman with Mild Factor XI Deficiency
2
조회
0
다운로드
1
인용
0
참고문헌
키워드
초록
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.
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.
참고문헌 (25)
- Davie EW, "The coagulation cascade: initiation, maintenance, and regulation", Biochemistry, 30, pp.10363~10370 (1991)
- Gailani D, "Factor XI activation in a revised model of blood coagulation", Science, 253, pp.909~912 (1991)
- Thompson RE, "Association of factor XI and high molecular weight kininogen in human plasma", J Clin Invest, 60, pp.1376~1380 (1977)
- Berber E, "Molecular characterization of FXI deficiency", Clin Appl Thromb Hemost, 17, pp.27~32 (2011)
- Asakai R, "Organization of the gene for human factor XI", Biochemistry, 26, pp.7221~7228 (1987)
- Rosenthal RL, "New hemophilia-like disease caused by deficiency of a third plasma thromboplastin factor", Proc Soc Exp Biol Med, pp.171~174 (1953)
- 이상현, "Successful Management of a Patient with Factor XI Deficiency andUnstable Angina by Percutaneous Coronary Intervention", Korean Circulation Journal, 35(11), pp.860~863 (2005), 대한심장학회
- Cho YK, "Two cases of factor XI deficiency in sisters", J Korean Pediatr Soc, 41, pp.401~404 (1998)
- Rha JY, "Three cases of factor XI deficiency", Korean J Pediatr Hematol Oncol, 8, pp.344~348 (2001)
- 김의숙, "Anesthetic experience of a patient with hereditary factor XI deficiency (Hemophilia C)", Korean Journal of Anesthesiology, 56(6), pp.706~708 (2009), 대한마취과학회
- Kwon MJ, "Severe factor XI deficiency in a Korean woman a novel missense mutation (Val498Met) and duplication G mutation in exon 13 of the F11 gene", Blood Coagul Fibrinolysis, 19, pp.679~683 (2008)
- "F XI deficiency mutation database"[URL]
- Ng PC, "SIFT: predicting amino acid changes that affect protein function", Nucleic Acids Res, 31, pp.3812~3814 (2003)
- Ramensky V, "Human non-synonymous SNPs: server and survey", Nucleic Acids Res, 30, pp.3894~3900 (2002)
- Papagrigoriou E, "Crystal structure of the factor XI zymogen reveals a pathway for transactivation", Nat Struct Mol Biol, 13, pp.557~558 (2006)
- Peyvandi F, "Factor XI deficiency in Iranians: its clinical manifestations in comparison with those of classic hemophilia", Haematologica, 87, pp.512~514 (2002)
- Asakai R, "Factor XI deficiency in Ashkenazi Jews in Israel", N Engl J Med, 325, pp.153~158 (1991)
- Shpilberg O, "One of the two common mutations causing factor XI deficiency in Ashkenazi Jews (type II) is also prevalent in Iraqi Jews, who represent the ancient gene pool of Jews", Blood, 85, pp.429~432 (1995)
- Peretz H, "The two common mutations causing factor XI deficiency in Jews stem from distinct founders: one of ancient Middle Eastern origin and another of more recent European origin", Blood, 90, pp.2654~2659 (1997)
- Hancock JF, "A molecular genetic study of factor XI deficiency", Blood, 77, pp.1942~1948 (1991)
- Duga S, "Factor XI deficiency", Semin Thromb Hemost, 35, pp.416~425 (2009)
- Seligsohn U, "Factor XI deficiency In Textbook of Haemophilia. 2nd ed", pp.355~361 (2010), Wiley-Blackwell
- Balton-Maggs PH, "The rare coagulation disorders--review with guidelines for management from the United Kingdom Haemophilia Centre Doctors’ Organisation", Haemophilia, 10, pp.593~628 (2004)
- Sun MF, "Identification of amino acids in the factor XI apple 3 domain required for activation of factor IX", J Biol Chem, 274, pp.36373~36378 (1999)
- Balton-Maggs PH, "Definition of the bleeding tendency in factor XI-deficient kindreds--a clinical and laboratory study", Thromb Haemost, 73, pp.194~202 (1995)