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Article

Mutations causing premature termination codons discriminate and generate cellular and clinical variability in HHT.

Blood - 30 May 2024

Bernabéu-Herrero Maria E, Patel Dilipkumar, Bielowka Adrianna, Zhu JiaYi, Jain Kinshuk, Mackay Ian S, Chaves Guerrero Patricia, Emanuelli Giulia, Jovine Luca, Noseda Michela, Marciniak Stefan J, Aldred Micheala A, Shovlin Claire L

Abstract excerpt

ABSTRACT: For monogenic diseases caused by pathogenic loss-of-function DNA variants, attention focuses on dysregulated gene-specific pathways, usually considering molecular subtypes together within causal genes. To better understand phenotypic variability in hereditary hemorrhagic telangiectasia (HHT), we subcategorized pathogenic DNA variants in ENG/endoglin, ACVRL1/ALK1, and SMAD4 if they generated premature...

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Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 38457357
DOI: 10.1182/blood.2023021777
PMCID: PMC11181359

Genes

ENG
ACVRL1
ATF4
SMAD4

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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Mutations causing premature termination codons discriminate and generate cellular and clinical variability in HHT.PMID 38457357Read ↗

Heterozygous transcriptional signatures unmask variable premature termination codon (PTC) burden alongside pathway-specific adaptations in blood outgrowth endothelial cells from patients with nonsense DNA variants causing hereditary hemorrhagic telangiectasiaSemantic proximity Read ↗

Mutation affecting the proximal promoter of Endoglin as the origin of hereditary hemorrhagic telangiectasia type 1.Semantic proximity Read ↗

Novel uAUG creating variants in the 5’UTR of ENG causing Hereditary Hemorrhagic TelangiectasiaSemantic proximity Read ↗

Translating evolutionary history and protein-focused machine learning supports increased prevalence of hereditary haemorrhagic telangiectasia, one of the most common inherited disorders.Semantic proximity Read ↗

Novel uAUG creating variants in the 5’UTR of ENG causing Hereditary Hemorrhagic TelangiectasiaSemantic proximity Read ↗

Curaçao diagnostic criteria for hereditary hemorrhagic telangiectasia is highly predictive of a pathogenic variant in ENG or ACVRL1 (HHT1 and HHT2).Semantic proximity Read ↗

Specifications of the ACMG/AMP Variant Curation Guidelines for Hereditary Hemorrhagic Telangiectasia Genes—ENG and ACVRL1Semantic proximity Read ↗

Overlapping upstream ORFs ending at c.125 lead to reduced Endoglin, contributing to Hereditary Hemorrhagic TelangiectasiaSemantic proximity Read ↗

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A Study on the Clinical Phenotypes and Genetic Analysis of ENG Variants in Four Hereditary Hemorrhagic Telangiectasia Type 1 Families.Semantic proximity Read ↗

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