{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,4,16]],"date-time":"2026-04-16T23:22:49Z","timestamp":1776381769126,"version":"3.51.2"},"reference-count":26,"publisher":"Wiley","issue":"10","license":[{"start":{"date-parts":[[2013,8,6]],"date-time":"2013-08-06T00:00:00Z","timestamp":1375747200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Eur J Clin Investigation"],"published-print":{"date-parts":[[2013,10]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Background<\/jats:title><jats:p>Mutations in activin receptor\u2010like kinase\u20101 <jats:italic>(<jats:styled-content style=\"fixed-case\">ACVRL<\/jats:styled-content>\u20101)<\/jats:italic> or endoglin <jats:italic>(<jats:styled-content style=\"fixed-case\">ENG<\/jats:styled-content>)<\/jats:italic> are mostly identified in patients with hereditary haemorrhagic telangiectasia (<jats:styled-content style=\"fixed-case\">HHT<\/jats:styled-content>) associated with pulmonary hypertension (<jats:styled-content style=\"fixed-case\">PH<\/jats:styled-content>), but have not yet been studied in Chinese patients.<\/jats:p><\/jats:sec><jats:sec><jats:title>Material and methods<\/jats:title><jats:p>In this study, we investigated the clinical and molecular genetic features of Chinese patients with <jats:styled-content style=\"fixed-case\">HHT<\/jats:styled-content>\u2010associated <jats:styled-content style=\"fixed-case\">PH<\/jats:styled-content> and analysed genotype\/phenotype correlations in 14 probands and their relatives. Mutation analyses in <jats:italic><jats:styled-content style=\"fixed-case\">ACVRL<\/jats:styled-content>\u20101<\/jats:italic>, bone morphogenetic protein receptor type 2 (<jats:italic><jats:styled-content style=\"fixed-case\">BMPR<\/jats:styled-content>2<\/jats:italic>) and <jats:italic><jats:styled-content style=\"fixed-case\">ENG<\/jats:styled-content><\/jats:italic> were performed in 14 Chinese Han patients with <jats:styled-content style=\"fixed-case\">HHT<\/jats:styled-content>\u2010associated <jats:styled-content style=\"fixed-case\">PH<\/jats:styled-content>.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>The overall mutation rate was 71\u00b74%, including 8 <jats:italic><jats:styled-content style=\"fixed-case\">ACVRL<\/jats:styled-content>\u20101<\/jats:italic> mutations and 2 <jats:italic><jats:styled-content style=\"fixed-case\">ENG<\/jats:styled-content><\/jats:italic> mutations, 6 of which were novel. Six patients were identified with arteriovenous malformations (<jats:styled-content style=\"fixed-case\">AVM<\/jats:styled-content>s), including four patients with pulmonary <jats:styled-content style=\"fixed-case\">AVM<\/jats:styled-content>s and two patients with liver <jats:styled-content style=\"fixed-case\">AVM<\/jats:styled-content>s. Five of the patients with <jats:styled-content style=\"fixed-case\">AVM<\/jats:styled-content>s were identified with mutations. Most patients received targeted therapy for <jats:styled-content style=\"fixed-case\">PH<\/jats:styled-content>.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusions<\/jats:title><jats:p>Our findings have revealed the clinical phenotype and molecular genetic features of <jats:styled-content style=\"fixed-case\">HHT<\/jats:styled-content>\u2010associated <jats:styled-content style=\"fixed-case\">PH<\/jats:styled-content> in Chinese Han patients and indicate that mutations of <jats:italic><jats:styled-content style=\"fixed-case\">ACVRL<\/jats:styled-content>\u20101<\/jats:italic> and <jats:italic><jats:styled-content style=\"fixed-case\">ENG<\/jats:styled-content><\/jats:italic> are genetic predisposing factors in Chinese patients. Our data further addressed clinical management and have provided limited experience in treating this group of disorders.<\/jats:p><\/jats:sec>","DOI":"10.1111\/eci.12138","type":"journal-article","created":{"date-parts":[[2013,7,10]],"date-time":"2013-07-10T10:10:20Z","timestamp":1373451020000},"page":"1016-1024","source":"Crossref","is-referenced-by-count":24,"title":["Clinical and genetic characteristics of Chinese patients with hereditary haemorrhagic telangiectasia\u2013associated pulmonary hypertension"],"prefix":"10.1111","volume":"43","author":[{"given":"Yan\u2010Jun","family":"Chen","sequence":"first","affiliation":[{"name":"Department of Cardiology the 4th Affiliated Hospital Harbin Medical University Harbin China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Qing\u2010Hui","family":"Yang","sequence":"additional","affiliation":[{"name":"Department of Cardiology the 4th Affiliated Hospital Harbin Medical University Harbin China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Dong","family":"Liu","sequence":"additional","affiliation":[{"name":"Department of Cardio\u2010Pulmonary Circulation Shanghai Pulmonary Hospital Tongji University School of Medicine Shanghai China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Qian\u2010Qian","family":"Liu","sequence":"additional","affiliation":[{"name":"Department of Cardio\u2010Pulmonary Circulation Shanghai Pulmonary Hospital Tongji University School of Medicine Shanghai China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"M\u00e9lanie","family":"Eyries","sequence":"additional","affiliation":[{"name":"Laboratoire d'oncog\u00e9n\u00e9tique et d'angiog\u00e9n\u00e9tique mol\u00e9culaire Groupe Hospitalier Piti\u00e9\u2010Salp\u00eatri\u00e8re boulevard de l'h\u00f4pital Paris France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Liang","family":"Wen","sequence":"additional","affiliation":[{"name":"Department of Cardiology the 4th Affiliated Hospital Harbin Medical University Harbin China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Wen\u2010Hui","family":"Wu","sequence":"additional","affiliation":[{"name":"Department of Cardio\u2010Pulmonary Circulation Shanghai Pulmonary Hospital Tongji University School of Medicine Shanghai China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Xin","family":"Jiang","sequence":"additional","affiliation":[{"name":"Department of Cardio\u2010Pulmonary Circulation Shanghai Pulmonary Hospital Tongji University School of Medicine Shanghai China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ping","family":"Yuan","sequence":"additional","affiliation":[{"name":"Department of Cardio\u2010Pulmonary Circulation Shanghai Pulmonary Hospital Tongji University School of Medicine Shanghai China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Rui","family":"Zhang","sequence":"additional","affiliation":[{"name":"Department of Cardio\u2010Pulmonary Circulation Shanghai Pulmonary Hospital Tongji University School of Medicine Shanghai China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Florent","family":"Soubrier","sequence":"additional","affiliation":[{"name":"Laboratoire d'oncog\u00e9n\u00e9tique et d'angiog\u00e9n\u00e9tique mol\u00e9culaire Groupe Hospitalier Piti\u00e9\u2010Salp\u00eatri\u00e8re boulevard de l'h\u00f4pital Paris France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Zhi\u2010Cheng","family":"Jing","sequence":"additional","affiliation":[{"name":"State Key Laboratory of Cardiovascular Disease Fu Wai Hospital National Center for Cardiovascular Diseases Chinese Academy of Medical Sciences &amp; 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