Trial reportMolecular genetics & genomic medicine2019
Variant analysis in Chinese families with hereditary hemorrhagic telangiectasia.
Trial report in Molecular genetics & genomic medicine, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 8 papers.
What it found
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The trial behind it
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Who cites it
8 citing papers in PubMed, 10 citations in OpenAlex.
- Variant analysis in Chinese families with hereditary hemorrhagic telangiectasia.Molecular genetics & genomic medicine · 2019Trial
- Pathogenic Variant Frequencies in Hereditary Haemorrhagic Telangiectasia Support Clinical Evidence of Protection from Myocardial Infarction.Journal of clinical medicine · 2023Article
- Pharmacogenomic Considerations for Anticoagulant Prescription in Patients with Hereditary Haemorrhagic Telangiectasia.Journal of clinical medicine · 2023Article
- Case Report: Clinical characteristics and genetic analysis of two patients with hereditary hemorrhagic telangiectasia.Frontiers in genetics · 2022Article
- Mutational and clinical spectrum of Japanese patients with hereditary hemorrhagic telangiectasia.BMC medical genomics · 2021Article
- Case report of juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome: first report in Korea with a novel mutation in theTranslational pediatrics · 2021Article
- Founder Effects in Hereditary Hemorrhagic Telangiectasia.Journal of clinical medicine · 2021Review
- Clinical characteristics and prognosis analysis of idiopathic and hereditary pulmonary hypertension patients withPulmonary circulationArticle
Corrections and comments
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Authors and funding
4 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundHereditary hemorrhagic telangiectasia (HHT) is a vascular dysplasia disorder characterized by epistaxis, mucocutaneous telangiectasias and arteriovenous malformations in internal organs. Recurrent epistaxis is the primary complaint in 90%-96% of HHT patients and the other symptoms come with age. The aim of this study was to analyze HHT-associated gene variant spectrum in Chinese HHT patients and to assess whether genetic testing could contribute to the early diagnosis. METHODOLOGY/PRINCIPAL: Thirty one HHT families including 62 individuals were recruited. Variants in the coding regions of four genes involved in HHT were amplified and analyzed using Sanger sequencing and multiplex ligation-dependent probe amplification (MLPA).
resultsTwenty unique variants, including 8 novel variants were found in 24 of the 31 (77.4%) kindred. Diagnosis is confirmed for 7 possible individuals from 6 kindred. Thirteen ACVRL1 variants were detected from 17 isolated HHT families. Variants in ACVRL1 from 8/17 (47.1%) families were located in exon8. Seven ENG variants were found in 7 unrelated families throughout the coding region.
conclusionWe conclude that ACVRL1 gene variant is 2.4 times more prevalent than that in ENG in Chinese individuals with HHT, and exon8 of the ACVRL1 gene may be a hotspot region. Genetic testing could contribute to early diagnosis for HHT.
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