P248: Genomic ascertainment study of ACVRL1- and ENG-related hereditary hemorrhagic telangiectasia

Genetics in Medicine Open 2026 Open access

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Authors: Mehrun N. Huda, Caralynn M. Wilczewski, Bennett J. Waxse, Jennifer J. Johnston, Justin Paschall, Clesson Turner, Joshua C. Denny, Leslie G. Biesecker
DOI: 10.1016/j.gimo.2026.103742
Cited by: 0

Abstract

Hereditary Hemorrhagic Telangiectasia (HHT) is inherited in an autosomal dominant pattern and is caused by pathogenic variants primarily in ACVRL1 and ENG. In phenotypically ascertained cohorts, manifestations include epistaxis, arteriovenous malformations (AVMs) of internal organs, and telangiectasias. Genomic ascertainment of individuals with pathogenic and likely pathogenic (P/LP) ACVRL1 and ENG variants may identify new phenotypic associations and shed light on the penetrance and variable expressivity of HHT.

Fields of Study & Subjects

Vascular Anomalies and Treatments Tuberous Sclerosis Complex Research Genomics and Rare Diseases

Publication details

Journal / source
Genetics in Medicine Open
Volume
4
Pages
103742–103742
Publication date
1 January 2026
Language
EN