Genetic Variants and Clinical Phenotypes in Korean Patients With Hereditary Hemorrhagic Telangiectasia.

ABSTRACT:

Objectives

Hereditary hemorrhagic telangiectasia (HHT) is an autosomal dominant vascular disorder characterized by recurrent epistaxis, telangiectasia, and visceral arteriovenous malformations (AVMs). Activin A receptor-like type 1 (ACVRL1/ALK1) and endoglin (ENG) are the principal genes whose mutations cause HHT. No multicenter study has yet investigated correlations between genetic variations and clinical outcomes in Korean HHT patients.

Methods

Seventy-two members from 40 families suspected to have HHT based on symptoms were genetically screened for pathogenic variants of ACVRL1 and ENG. Patients with genetically diagnosed HHT were also evaluated.

Results

In the HHT genetic screening, 42 patients from 24 of the 40 families had genetic variants that met the pathogen

SUBMITTER: Kim BG 

PROVIDER: S-EPMC8606283 | biostudies-literature | 2021 Nov

REPOSITORIES: biostudies-literature