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A case of hereditary hemorrhagic telangiectasia with ACVRL1 gene variant
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All claims expressed in this article are solely those of the authors and do not necessarily represent those of their affiliated organizations, or those of the publisher, the editors and the reviewers. Any product that may be evaluated in this article or claim that may be made by its manufacturer is not guaranteed or endorsed by the publisher.
Published: 27 March 2026
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Authors
Dear Editor,
Hereditary hemorrhagic telangiectasia (HHT) is an inherited vascular disease characterized by multiple localized abnormal connections between an artery and a vein. The majority (>85%) of HHT patients are heterozygous for loss-of-function variants in the ENG (HHT1) or ACVRL1 (HHT2) genes, while a minority (<5%) carry pathogenic variants in the SMAD4 gene and show a combined juvenile polyposis and HHT phenotype (JP/HHT). In addition, a very rare group of patients with an HHT-like phenotype maps to variants in GDF2 (also known as BMP9, HHT5). [...]
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Citations
1. Arthur HM, Roman BL. An update on preclinical models of hereditary haemorrhagic telangiectasia: Insights into disease mechanisms. Front Med (Lausanne) 2022;9:973964.
2. Nomura F, Shimizu A, Togi S, et al. SNP Array Screening and Long Range PCR-Based Targeted Next Generation Sequencing for Autosomal Recessive Disease with Consanguinity: Insight from a Case of Xeroderma Pigmentosum Group C. Genes (Basel) 2023;14:2079.
3. Abdalla SA, Pece-Barbara N, Vera S, et al. Analysis of ALK-1 and endoglin in newborns from families with hereditary hemorrhagic telangiectasia type 2. Hum Mol Genet 2000;9:1227-37.
4. Kuehl HK, Caselitz M, Hasenkamp S, et al. Hepatic manifestation is associated with ALK1 in hereditary hemorrhagic telangiectasia: identification of five novel ALK1 and one novel ENG mutations. Hum Mutat 2005;25:320.
5. Shovlin CL, Guttmacher AE, Buscarini E, et al. Diagnostic criteria for hereditary hemorrhagic telangiectasia (Rendu-Osler-Weber syndrome). Am J Med Genet 2000;91:66-7.
6. McDonald J, Wooderchak-Donahue W, VanSant Webb C, et al. Hereditary hemorrhagic telangiectasia: genetics and molecular diagnostics in a new era. Front Genet 2015;6:1.
7. Bernabeu C, Bayrak-Toydemir P, McDonald J, Letarte M. Potential Second-Hits in Hereditary Hemorrhagic Telangiectasia. J Clin Med 2020;9.
8. Hanks SK, Quinn AM, Hunter T. The protein kinase family: conserved features and deduced phylogeny of the catalytic domains. Science 1988;241:42-52.
9. Abdalla SA, Cymerman U, Johnson RM, et al. Disease-associated mutations in conserved residues of ALK-1 kinase domain. Eur J Hum Genet 2003;11:279-87.
10. Iriarte A, Figueras A, Cerda P, et al. PI3K (Phosphatidylinositol 3-Kinase) Activation and Endothelial Cell Proliferation in Patients with Hemorrhagic Hereditary Telangiectasia Type 1. Cells 2019;8.
How to Cite
1.
Ochiai S, Yamaguchi R, Takeda K, Oishi N, Togi S, Ura H, et al. A case of hereditary hemorrhagic telangiectasia with ACVRL1 gene variant. Dermatol Reports [Internet]. 2026 Mar. 27 [cited 2026 Apr. 19];. Available from: https://journals.pagepress.net/dr/article/view/10582
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