Acta Medica Okayama volume74 issue2
2020-04 発行

Identification of a Novel ACVRL1 Gene Mutation (c.100T>A, p.Cys34Ser) in a Japanese Patient with Possible Hereditary Hemorrhagic Telangiectasia (Osler-Weber-Rendu Disease)

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
Publication Date
2020-04
Abstract
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.
Document Type
Case Report
Keywords
ACVRL1
hereditary hemorrhagic telangiectasia
in silico analysis
missense mutation
Osler-Weber- Rendu disease
Link to PubMed
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