ID | 58276 |
JaLCDOI | |
フルテキストURL | |
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
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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.
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キーワード | ACVRL1
hereditary hemorrhagic telangiectasia
in silico analysis
missense mutation
Osler-Weber- Rendu disease
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Amo Type | Case Report
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出版物タイトル |
Acta Medica Okayama
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発行日 | 2020-04
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巻 | 74巻
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号 | 2号
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出版者 | Okayama University Medical School
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開始ページ | 165
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終了ページ | 169
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ISSN | 0386-300X
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NCID | AA00508441
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資料タイプ |
学術雑誌論文
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言語 |
英語
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著作権者 | CopyrightⒸ 2020 by Okayama University Medical School
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論文のバージョン | publisher
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査読 |
有り
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PubMed ID | |
Web of Science KeyUT | |
NAID |