ArticleThe Journal of molecular diagnostics : JMD2007
Clinical and analytical sensitivities in hereditary hemorrhagic telangiectasia testing and a report of de novo mutations.
Article in The Journal of molecular diagnostics : JMD, 2007. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 22 papers.
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Who cites it
22 citing papers in PubMed.
- Pathophysiology in Brain Arteriovenous Malformations: Focus on Endothelial Dysfunctions and Endothelial-to-Mesenchymal Transition.Biomedicines · 2024Review
- Specifications of the ACMG/AMP Variant Curation Guidelines for Hereditary Hemorrhagic Telangiectasia Genes-Human mutation · 2024Article
- Pathogenic Variant Frequencies in Hereditary Haemorrhagic Telangiectasia Support Clinical Evidence of Protection from Myocardial Infarction.Journal of clinical medicine · 2023Article
- Computational and Experimental Analyses for Pathogenicity Prediction ofJournal of clinical medicine · 2023Article
- AThe Journal of international medical research · 2023Article
- Pulmonary Hypertension Associated Genetic Variants in Sarcoidosis Associated Pulmonary Hypertension.Diagnostics (Basel, Switzerland) · 2022Article
- Hereditary hemorrhagic telangiectasia (HHT): a practical guide to management.Hematology. American Society of Hematology. Education Program · 2021Article
- Clinicopathologic Conference: A Four-Year-Old Child With Digital Clubbing.Arthritis care & research · 2021Article
- Founder Effects in Hereditary Hemorrhagic Telangiectasia.Journal of clinical medicine · 2021Review
- Potential Second-Hits in Hereditary Hemorrhagic Telangiectasia.Journal of clinical medicine · 2020Review
- 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
- Characterization of a family mutation in the 5' untranslated region of the endoglin gene causative of hereditary hemorrhagic telangiectasia.Journal of human genetics · 2019Article
- Genetic Insights into Cerebrovascular Disorders: A Comprehensive Review.Journal of vascular and interventional neurology · 2017Article
- Hereditary hemorrhagic telangiectasia: genetics and molecular diagnostics in a new era.Frontiers in genetics · 2015Review
- Hereditary hemorrhagic telangiectasia in Japanese patients.Journal of human genetics · 2014Article
- Standard anticoagulation for mesenteric vein thrombosis, revealing a 'zebra' diagnosis: hereditary haemorrhagic telangiectasia--the dripping truth!BMJ case reports · 2013Review
- BMP9 mutations cause a vascular-anomaly syndrome with phenotypic overlap with hereditary hemorrhagic telangiectasia.American journal of human genetics · 2013Article
- Functional studies and rare variant screening of SLC1A1/EAAC1 in males with obsessive-compulsive disorder.Psychiatric genetics · 2012Article
- Why is genetic screening for autosomal dominant disorders underused in families? The case of hereditary hemorrhagic telangiectasia.Genetics in medicine : official journal of the American College of Medical Genetics · 2011Article
- Multiple sequence variants in hereditary hemorrhagic telangiectasia cases: illustration of complexity in molecular diagnostic interpretation.The Journal of molecular diagnostics : JMD · 2009Article
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Authors and funding
8 authors.
Funding
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Abstract
Hereditary hemorrhagic telangiectasia is a vascular dysplasia with variable onset and expression. Through identification of a mutation in a proband, mutation testing can be offered to family members. Mutation carriers can receive medical surveillance and treatment before potentially fatal complications arise. In this study, we assessed the significance of clinical evaluations as part of hereditary hemorrhagic telangiectasia diagnostic testing to determine the clinical sensitivity of molecular testing and to report novel mutations. Based on reported clinical symptoms, we classified 142 consecutive cases as affected, suspected, or unlikely affected. We performed temperature gradient capillary electrophoresis and full gene sequencing of both ACVRL1 and ENG genes. We then compared the mutation detection rates between these groups, categorizing sequence variants as mutations, variants of uncertain significance (VUS), or known polymorphisms. Our mutation and VUS detection rate in affected individuals was 74% and 16% in the suspected/unlikely affected group. Sixty-one percent of the mutations and all VUS were novel. The mutation detection rate for temperature gradient capillary electrophoresis was 97%. Our results suggest that a careful clinical evaluation increases the mutation detection rate. We have confirmed the occurrence of de novo mutations in three patients. Our results also show that temperature gradient capillary electrophoresis is an efficient mutation screening method.
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