ArticleHuman genome variation2015
Mutations in RASA1 and GDF2 identified in patients with clinical features of hereditary hemorrhagic telangiectasia.
Article in Human genome variation, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 36 papers.
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Who cites it
36 citing papers in PubMed, 65 citations in OpenAlex.
- Arteriovenous Malformations (AVMs): Molecular Pathogenesis, Clinical Features, and Emerging Therapeutic Strategies.Biomolecules · 2025Review
- Antiangiogenic Treatment of Patients with Hereditary Hemorrhagic Telangiectasia: Experience of a Hungarian Center.Journal of clinical medicine · 2025Article
- Epistaxis due to hereditary hemorrhagic telangiectasia: A case report and literature review.The Journal of international medical research · 2025Review
- Clinical Phenotypes of a Pediatric Cohort withJournal of clinical medicine · 2025Article
- A non-genetic model of vascular shunts informs on the cellular mechanisms of formation and resolution of arteriovenous malformations.Cardiovascular research · 2024Article
- Hereditary hemorrhagic telangiectasia: from signaling insights to therapeutic advances.The Journal of clinical investigation · 2024Review
- Pulmonary hypertension in hereditary hemorrhagic telangiectasia: A clinical review.Pulmonary circulation · 2023Review
- Executive summary of the 14th HHT international scientific conference.Angiogenesis · 2023Article
- Current guidelines for diagnosis and management of hepatic involvement in hereditary hemorrhagic teleangiectasia.World journal of hepatology · 2023Review
- The Potential Role of MiRs-139-5p and -454-3p in Endoglin-Knockdown-Induced Angiogenic Dysfunction in HUVECs.International journal of molecular sciences · 2023Article
- AThe Journal of international medical research · 2023Article
- Hereditary Hemorrhagic Telangiectasia: Genetics, Pathophysiology, Diagnosis, and Management.Journal of clinical medicine · 2022Review
- A case of hereditary hemorrhagic telangiectasia and literature review.Journal of clinical laboratory analysis · 2022Review
- Hereditary Hemorrhagic Telangiectasia and Arterio-Venous Malformations-From Diagnosis to Therapeutic Challenges.Journal of clinical medicine · 2022Review
- Article
- Brain arteriovenous malformation in hereditary hemorrhagic telangiectasia: Recent advances in cellular and molecular mechanisms.Frontiers in human neuroscience · 2022Review
- Hereditary hemorrhagic telangiectasia (HHT): a practical guide to management.Hematology. American Society of Hematology. Education Program · 2021Article
- [Hereditary hemorrhagic telangiectasia: 8 case report and lirerature review].Lin chuang er bi yan hou tou jing wai ke za zhi = Journal of clinical otorhinolaryngology head and neck surgery · 2021Article
- Endoglin deficiency impairs VEGFR2 but not FGFR1 or TIE2 activation and alters VEGF-mediated cellular responses in human primary endothelial cells.Translational research : the journal of laboratory and clinical medicine · 2021Article
- The BMP Pathway in Blood Vessel and Lymphatic Vessel Biology.International journal of molecular sciences · 2021Review
Corrections and comments
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Authors and funding
8 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Hereditary hemorrhagic telangiectasia (HHT) is an autosomal dominant vascular disorder caused by mutations in ENG, ACVRL1 and SMAD4, which function in regulating the transforming growth factor beta and bone morphogenetic protein signaling pathways. Symptoms of HHT can be present in individuals who test negative for mutations in these three genes indicating other genes may be involved. In this study, we tested for mutations in two genes, RASA1 and GDF2, which were recently reported to be involved in vascular disorders. To determine whether RASA1 and GDF2 have phenotypic overlap with HHT and should be included in diagnostic testing, we developed a next-generation sequencing assay to detect mutations in 93 unrelated individuals who previously tested negative for mutations in ENG, ACVRL1 and SMAD4, but were clinically suspected to have HHT. Pathogenic mutations in RASA1 were identified in two samples (2.15%) and a variant of unknown significance in GDF2 was detected in one sample. All three individuals experienced epistaxis with dermal lesions described in medical records as telangiectases. These results indicate that the inclusion of RASA1 and GDF2 screening in individuals suspected to have HHT will increase the detection rate and aid clinicians in making an accurate diagnosis.
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Registered trials
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.