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

32341592

ISSN

0386-300X