Related Experiment Video
Updated: Mar 29, 2026
Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease
Published on: April 4, 2018
A case of hereditary hemorrhagic telangiectasia with ACVRL1 gene variant
Sawako Ochiai1, Reimon Yamaguchi1, Kiminobu Takeda1
1Department of Dermatology, Kanazawa Medical University, Uchinada, Ishikawa.
Dear Editor, Hereditary hemorrhagic telangiectasia (HHT) is an inherited vascular disease characterized by multiple localized abnormal connections between an artery and a vein. The majority (>85%) of HHT patients are heterozygous for loss-of-function variants in the ENG (HHT1) or ACVRL1 (HHT2) genes, while a minority (<5%) carry pathogenic variants in the SMAD4 gene and show a combined juvenile polyposis and HHT phenotype (JP/HHT). In addition, a very rare group of patients with an HHT-like phenotype maps to variants in GDF2 (also known as BMP9, HHT5). [...].
Dear Editor, Hereditary hemorrhagic telangiectasia (HHT) is an inherited vascular disease characterized by multiple localized abnormal connections between an artery and a vein. The majority (>85%) of HHT patients are heterozygous for loss-of-function variants in the ENG (HHT1) or ACVRL1 (HHT2) genes, while a minority (<5%) carry pathogenic variants in the SMAD4 gene and show a combined juvenile polyposis and HHT phenotype (JP/HHT). In addition, a very rare group of patients with an HHT-like phenotype maps to variants in GDF2 (also known as BMP9, HHT5). [...].
More Related Videos
Related Concept Videos
01:20The Retinoblastoma Gene
The first-ever tumor suppressor gene called Rb was identified in retinoblastoma - a rare eye tumor in children. In inherited forms of the disease, a child inherits one defective copy of the Rb gene, which predisposes them to retinoblastoma. However,...
01:24Esophageal Varices-I: Introduction
01:24Regulation of Angiogenesis and Blood Supply
01:27Principles of Pharmacogenetics: Types of Genetic Variants
01:11Genetic Lingo