지원사업
학술연구/단체지원/교육 등 연구자 활동을 지속하도록 DBpia가 지원하고 있어요.
커뮤니티
연구자들이 자신의 연구와 전문성을 널리 알리고, 새로운 협력의 기회를 만들 수 있는 네트워킹 공간이에요.
논문 기본 정보
- 자료유형
- 학술저널
- 저자정보
- 발행연도
- 2009.1
- 수록면
- 69 - 76 (8page)
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초록· 키워드
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Hereditary hemorrhagic telangiectasia (HHT) is an inherited disorder that is characterized by abnormal communication between the arteries and veins in the skin, mucosa, and various organs. HHT has been reported to show significant phenotypic variability and genetic heterogeneity with wide ethnic and geographic variations. Although mutations in the endoglin (ENG) and activin A receptor type II-like 1 (ACVRL1) genes have been known to cause HHT for more than 10 yr, little is known about the clinical features or genetic background of Korean patients with HHT. In addition, mutations in mothers against decapentaplegic homolog 4 (SMAD4) are also seen in patients with the combined syndrome of juvenile polyposis and HHT. This study examined five Korean patients with the typical manifestations of HHT such as frequent epistaxis and pulmonary arteriovenous malformations. Direct sequencing of the ENG and ACVRL1 genes revealed one known mutation, ENG c.277C>T, in one patient and two novel mutations, ENG c.992-1G>C and ACVRL1 c.81dupT in two patients, respectively. The remaining two patients with negative results were screened for SMAD4 mutations as well as gross deletions of ENG and ACVRL1 using multiple ligation-dependent probe amplification, but none was detected. Despite the small number of patients investigated, we firstly report Korean patients with genetically confirmed HHT, and show the genetic and allelic heterogeneity underlying HHT.
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참고문헌 (36)
참고문헌 신청
Peery WH / 1987 / Clinical spectrum of hereditary hemorrhagic telangiectasia (Osler-Weber-Rendu disease) / Am J Med 82:989~997
Abdalla SA / 2006 / Hereditary haemorrhagic telangiectasia: current views on genetics and mechanisms of disease / J Med Genet 43:97~110
Westermann CJ / 2003 / The prevalence and manifestations of hereditary hemorrhagic telangiectasia in the Afro-Caribbean population of the Netherlands Antilles: a family screening / Am J Med Genet A 116:324~328
Porteous ME / 1992 / Hereditary haemorrhagic telangiectasia: a clinical analysis / J Med Genet 29:527~530
Guttmacher AE / 1995 / Hereditary hemorrhagic telangiectasia / N Engl J Med 333:918~924
Abdalla SA / 2006 / Hereditary haemorrhagic telangiectasia: current views on genetics and mechanisms of disease / J Med Genet 43:97~110
Westermann CJ / 2003 / The prevalence and manifestations of hereditary hemorrhagic telangiectasia in the Afro-Caribbean population of the Netherlands Antilles: a family screening / Am J Med Genet A 116:324~328
Porteous ME / 1992 / Hereditary haemorrhagic telangiectasia: a clinical analysis / J Med Genet 29:527~530
Guttmacher AE / 1995 / Hereditary hemorrhagic telangiectasia / N Engl J Med 333:918~924
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