ArticleBMC genetics2016
Mutational and clinical analysis of the ENG gene in patients with pulmonary arterial hypertension.
Article in BMC genetics, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 18 papers.
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18 citing papers in PubMed, 28 citations in OpenAlex.
- Article
- Identification of Monogenic Causes of Arterial Ischemic Stroke in Children with Arteriopathies by Next-Generation Sequencing.International journal of molecular sciences · 2025Article
- A Comprehensive Review Exploring the Role of Bone Morphogenetic Proteins [BMP]: Biological Mechanisms.Current issues in molecular biology · 2025Review
- The potential regulatory role of BMP9 in inflammatory responses.Genes & diseases · 2022Review
- Pulmonary Hypertension Associated Genetic Variants in Sarcoidosis Associated Pulmonary Hypertension.Diagnostics (Basel, Switzerland) · 2022Article
- Molecular and Genetic Profiling for Precision Medicines in Pulmonary Arterial Hypertension.Cells · 2021Review
- The BMP Receptor 2 in Pulmonary Arterial Hypertension: When and Where the Animal Model Matches the Patient.Cells · 2020Article
- Clinical characteristics and survival of Chinese patients diagnosed with pulmonary arterial hypertension who carry BMPR2 or EIF2KAK4 variants.BMC pulmonary medicine · 2020Article
- Pulmonary Hypertension and Hereditary Hemorrhagic Telangiectasia Related to an ACVRL1 Mutation.Internal medicine (Tokyo, Japan) · 2020Article
- Bone morphogenetic protein receptor signal transduction in human disease.The Journal of pathology · 2019Review
- Integrating host response and unbiased microbe detection for lower respiratory tract infection diagnosis in critically ill adults.Proceedings of the National Academy of Sciences of the United States of America · 2018Article
- Pulmonary Arterial Hypertension and Hereditary Haemorrhagic Telangiectasia.International journal of molecular sciences · 2018Review
- BMP type II receptor as a therapeutic target in pulmonary arterial hypertension.Cellular and molecular life sciences : CMLS · 2017Review
- Molecular and functional characterization of the BMPR2 gene in Pulmonary Arterial Hypertension.Scientific reports · 2017Article
- Complex inheritance in Pulmonary Arterial Hypertension patients with several mutations.Scientific reports · 2016Article
- Bioinformatics Identification of Key Genes for the Development and Prognosis of Lung Adenocarcinoma.Inquiry : a journal of medical care organization, provision and financingArticle
- Genetic and molecular drivers of scleroderma pathogenesis.Clinics in dermatologyReview
- Transcriptional profiling of lung cell populations in idiopathic pulmonary arterial hypertension.Pulmonary circulationArticle
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Authors and funding
5 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundPulmonary arterial hypertension (PAH) is a rare vascular disorder characterized by a capillary wedge pressure ≤ 15 mmHg and a mean pulmonary arterial pressure ≥ 25 mmHg at rest. PAH can be idiopathic, heritable or associated with other conditions. The aim of this study was to analyze the Endoglin (ENG) gene and assess the influence of the c.572G > A (p.G191D) mutation in patients with idiopathic or associated PAH. The correlation between the pathogenic mutations and clinical and functional parameters was further analyzed.
resultsSixteen different changes in the ENG gene were found in 44 out of 57 patients. After in silico analysis, we classified eight mutations as pathogenic in 16 of patients. The c.572G>A (p.G191D) variation was observed in ten patients, and the analysis for the splicing process using hybrid minigenes, with pSPL3 vector to assess splicing alterations, do not generate a new transcript. Age at diagnosis (p = 0.049) and the 6-min walking test (p = 0.041) exhibited statistically significant differences between carriers and non-carriers of pathogenic mutations. Patients with pathogenic mutations exhibited disease symptoms 8 years before non-carriers. Five patients with pathogenic mutations were carriers of another mutation in the BMPR2 or ACVRL1 genes.
conclusionsWe present a series of PAH patients with mutations in the ENG gene, some of them not previously described, exhibiting clinical and hemodynamic alterations suggesting that the presence of these mutations may be associated with the severity of the disease. Moreover, genetic analysis in patients with PAH may be of clinical relevance and indicates the complexity of the genetic background.
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