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학술연구/단체지원/교육 등 연구자 활동을 지속하도록 DBpia가 지원하고 있어요.
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연구자들이 자신의 연구와 전문성을 널리 알리고, 새로운 협력의 기회를 만들 수 있는 네트워킹 공간이에요.
논문 기본 정보
- 자료유형
- 학술저널
- 저자정보
- 발행연도
- 2019.1
- 수록면
- 545 - 551 (7page)
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초록· 키워드
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Background: von Willebrand disease (VWD), characterized by quantitative or qualitative defects of von Willebrand factor (VWF), is the most common inheritable bleeding disorder. Data regarding the genetic background of VWD in Korean patients is limited. To our knowledge, this is the first comprehensive molecular genetic investigation of Korean patients with VWD. Methods: Twenty-two unrelated patients with VWD were recruited from August 2014 to December 2017 (age range 28 months−64 years; male:female ratio 1.2:1). Fifteen patients had type 1, six had type 2, and one had type 3 VWD. Blood samples were collected for coagulation analyses and molecular genetic analyses from each patient. Direct sequencing of all exons, flanking intronic sequences, and the promoter of VWF was performed. In patients without sequence variants, multiplex ligation-dependent probe amplification (MLPA) was performed to detect dosage variants. We adapted the American College of Medical Genetics and Genomics guidelines for variant interpretation and considered variants of uncertain significance, likely pathogenic variants, and pathogenic variants as putative disease-causing variants. Results: VWF variants were identified in 15 patients (68%): 14 patients with a single heterozygous variant and one patient with two heterozygous variants. The variants consisted of 13 missense variants, one small insertion, and one splicing variant. Four variants were novel: p.S764Efs*16, p.C889R, p.C1130Y, and p.W2193C. MLPA analysis in seven patients without reportable variants revealed no dosage variants. Conclusions: This study revealed the spectrum of VWF variants, including novel ones, and limited diagnostic utility of MLPA analyses in Korean patients with VWD.
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참고문헌 (31)
참고문헌 신청
Rodeghiero F / 1987 / Epidemiological investigation of the prevalence of von Willebrand’s disease / Blood 69:454~459
Goodeve AC / 2010 / The genetic basis of von Willebrand disease / Blood Rev 24:123~134
Mancuso DJ / 1989 / Structure of the gene for human von Willebrand factor / J Biol Chem 264:19514~19527
Zhou YF / 2012 / Sequence and structure relationships within von Willebrand factor / Blood 120:449~458
Sadler JE / 2006 / Update on the pathophysiology and classification of von Willebrand disease : a report of the Subcommittee on von Willebrand Factor / J Thromb Haemost 4:2103~2114
Goodeve AC / 2010 / The genetic basis of von Willebrand disease / Blood Rev 24:123~134
Mancuso DJ / 1989 / Structure of the gene for human von Willebrand factor / J Biol Chem 264:19514~19527
Zhou YF / 2012 / Sequence and structure relationships within von Willebrand factor / Blood 120:449~458
Sadler JE / 2006 / Update on the pathophysiology and classification of von Willebrand disease : a report of the Subcommittee on von Willebrand Factor / J Thromb Haemost 4:2103~2114
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