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ID 58276
JaLCDOI
フルテキストURL
Thumnail 74_2_165.pdf 10.3 MB
著者
Umemura, Hiroshi Division of Laboratory Medicine, Department of Pathology and Microbiology, Nihon University School of Medicine
Miura, Katsuhiro Division of Hematology and Rheumatology, Department of Medicine, Nihon University School of Medicine
Naruse, Hiromu Division of Laboratory Medicine, Department of Pathology and Microbiology, Nihon University School of Medicine
Hatta, Yoshihiro Division of Hematology and Rheumatology, Department of Medicine, Nihon University School of Medicine
Takei, Masami Division of Hematology and Rheumatology, Department of Medicine, Nihon University School of Medicine
Nakayama, Tomohiro Division of Laboratory Medicine, Department of Pathology and Microbiology, Nihon University School of Medicine
抄録
Hereditary hemorrhagic telangiectasia (HHT; also known as Osler-Weber-Rendu disease) is an autosomal dominant genetic disorder that causes frequent epistaxis, mucocutaneous telangiectasia, and visceral arteriovenous malformations. Four genes (ENG, ACVRL1, SMAD4, and GDF2) have been identified as pathogenic in HHT. We describe the case of a 50-year-old Japanese man highly suspected of having HHT due to recurrent epistaxis, mucocutaneous telangiectasia, and a family history. Genomic analysis revealed a novel missense mutation of c.100T>A, p.Cys34Ser in the patient’s ACVRL1 gene. We used 6 freeware programs to perform an in silico analysis of this mutation. The results demonstrated the mutation’s high pathogenicity.
キーワード
ACVRL1
hereditary hemorrhagic telangiectasia
in silico analysis
missense mutation
Osler-Weber- Rendu disease
Amo Type
Case Report
発行日
2020-04
出版物タイトル
Acta Medica Okayama
74巻
2号
出版者
Okayama University Medical School
開始ページ
165
終了ページ
169
ISSN
0386-300X
NCID
AA00508441
資料タイプ
学術雑誌論文
言語
English
著作権者
CopyrightⒸ 2020 by Okayama University Medical School
論文のバージョン
publisher
査読
有り
PubMed ID
Web of Science KeyUT