ArticleOrphanet journal of rare diseases2011
5'UTR mutations of ENG cause hereditary hemorrhagic telangiectasia.
Article in Orphanet journal of rare diseases, 2011. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 20 papers, 1 of them a synthesis that pooled it.
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Who cites it
20 citing papers in PubMed, 1 synthesis or guideline pooled it, 38 citations in OpenAlex.
- Role of Endoglin Insertion and rs1800956 Polymorphisms in Intracranial Aneurysm Susceptibility: A Meta-Analysis.Medicine · 2015Pooled it
- Multigene panel analysis of connective tissue and vascular genes in patients with a bleeding disorder of unknown cause or a cerebrovascular event.Research and practice in thrombosis and haemostasis · 2026Article
- Predicting the translation efficiency of messenger RNA in mammalian cells.Nature biotechnology · 2026Article
- Overlapping upstream ORFs ending at c.125 lead to reduced Endoglin, contributing to Hereditary Hemorrhagic Telangiectasia.Communications biology · 2025Article
- Case report: Novel homozygousFrontiers in genetics · 2025Article
- Specifications of the ACMG/AMP Variant Curation Guidelines for Hereditary Hemorrhagic Telangiectasia Genes-Human mutation · 2024Article
- uAUG creating variants in the 5'UTR of ENG causing Hereditary Hemorrhagic Telangiectasia.NPJ genomic medicine · 2023Article
- Mild limb girdle muscular dystrophy R9 phenotype caused by novel compound heterozygous FKRP gene mutation.Acta myologica : myopathies and cardiomyopathies : official journal of the Mediterranean Society of Myology · 2023Article
- Common and Rare 5'UTR Variants Altering Upstream Open Reading Frames in Cardiovascular Genomics.Frontiers in cardiovascular medicine · 2022Review
- Using CRISPR/Cas9 genome editing in human iPSCs for deciphering the pathogenicity of a novelFrontiers in molecular biosciences · 2022Article
- Curaçao diagnostic criteria for hereditary hemorrhagic telangiectasia is highly predictive of a pathogenic variant in ENG or ACVRL1 (HHT1 and HHT2).Genetics in medicine : official journal of the American College of Medical Genetics · 2020Article
- Future treatments for hereditary hemorrhagic telangiectasia.Orphanet journal of rare diseases · 2020Review
- Characterization of a family mutation in the 5' untranslated region of the endoglin gene causative of hereditary hemorrhagic telangiectasia.Journal of human genetics · 2019Article
- Characterization of pulmonary arteriovenous malformations in ACVRL1 versus ENG mutation carriers in hereditary hemorrhagic telangiectasia.Genetics in medicine : official journal of the American College of Medical Genetics · 2018Article
- Mutation affecting the proximal promoter of Endoglin as the origin of hereditary hemorrhagic telangiectasia type 1.BMC medical genetics · 2017Article
- A non-coding variant in the 5' UTR of DLG3 attenuates protein translation to cause non-syndromic intellectual disability.European journal of human genetics : EJHG · 2016Article
- Establishing and validating regulatory regions for variant annotation and expression analysis.BMC genomics · 2016Article
- Hereditary hemorrhagic telangiectasia: genetics and molecular diagnostics in a new era.Frontiers in genetics · 2015Review
- Copy number variations in endoglin locus: mapping of large deletions in Spanish families with hereditary hemorrhagic telangiectasia type 1.BMC medical genetics · 2013Article
- Bioinformatics Identification of Key Genes for the Development and Prognosis of Lung Adenocarcinoma.Inquiry : a journal of medical care organization, provision and financingArticle
Corrections and comments
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Authors and funding
9 authors at 5 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundHereditary hemorrhagic telangiectasia (HHT) is a vascular disorder characterized by epistaxis, arteriovenous malformations, and telangiectases. The majority of the patients have a mutation in the coding region of the activin A receptor type II-like 1 (ACVRL1) or Endoglin (ENG) gene. However, in approximately 15% of cases, sequencing analysis and deletion/duplication testing fail to identify mutations in the coding regions of these genes. Knowing its vital role in transcription and translation control, we were prompted to investigate the 5'untranslated region (UTR) of ENG. METHODS AND
resultsWe sequenced the 5'UTR of ENG for 154 HHT patients without mutations in ENG or ACVRL1 coding regions. We found a mutation (c.-127C > T), which is predicted to affect translation initiation and alter the reading frame of endoglin. This mutation was found in a family with linkage to the ENG, as well as in three other patients, one of which had an affected sibling with the same mutation. In vitro expression studies showed that a construct with the c.-127C > T mutation alters the translation and decreases the level of the endoglin protein. In addition, a c.-9G > A mutation was found in three patients, one of whom was homozygous for this mutation. Expression studies showed decreased protein levels suggesting that the c.-9G > A is a hypomorphic mutation.
conclusionsOur results emphasize the need for the inclusion of the 5'UTR region of ENG in clinical testing for HHT.
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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.