{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,4]],"date-time":"2026-10-04T18:19:30Z","timestamp":1791137970405,"version":"4.1.0"},"reference-count":30,"publisher":"European Respiratory Society (ERS)","issue":"3","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Eur Respir J"],"accepted":{"date-parts":[[2003,10,9]]},"published-print":{"date-parts":[[2004,3]]},"abstract":"<jats:p>Primary pulmonary hypertension (PPH) is a rare but severe and progressive disease characterised by obstructive lesions of small pulmonary arteries. Patients with PPH often have mutations in the bone morphogenetic protein receptor type II (<jats:italic>BMPR2<\/jats:italic>) gene, whereas some carry mutations in the activin receptor-like kinase 1 (<jats:italic>ALK\u20101<\/jats:italic>) gene, generally associated with hereditary haemorrhagic telangiectasia (HHT) type 2, a vascular dysplasia affecting multiple organs. The aim of this study was to determine whether members of families with PPH and confirmed or probable HHT had<jats:italic>ALK\u20101<\/jats:italic>mutations.<\/jats:p><jats:p><jats:italic>ALK\u20101<\/jats:italic>and<jats:italic>BMPR2<\/jats:italic>mutation analysis was performed on deoxyribonucleic acid from affected members of four families with PPH and confirmed or suspected HHT.<\/jats:p><jats:p><jats:italic>ALK\u20101<\/jats:italic>mutations were identified in all four families and three novel mutations found in exon 10, leading to truncated proteins. In the fourth family, a missense mutation, previously reported in four independent HHT families, was detected in exon 8. Analysis of the<jats:italic>BMPR2<\/jats:italic>gene revealed no exonic mutations in the probands with both PPH and HHT.<\/jats:p><jats:p>The present data bring to 10 the number of reported families with primary pulmonary hypertension and hereditary haemorrhagic telangiectasia type 2, representing 16% of the 61 families with known activin receptor-like kinase 1 mutations. Such mutations might predispose to primary pulmonary hypertension, and specialists should be aware of the potential link between these two disorders.<\/jats:p>","DOI":"10.1183\/09031936.04.00085504","type":"journal-article","created":{"date-parts":[[2004,2,18]],"date-time":"2004-02-18T22:56:57Z","timestamp":1077145017000},"page":"373-377","source":"Crossref","is-referenced-by-count":99,"title":["Primary pulmonary hypertension in families with hereditary haemorrhagic telangiectasia"],"prefix":"10.1183","volume":"23","author":[{"given":"S.A.","family":"Abdalla","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"C.J.","family":"Gallione","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"R.J.","family":"Barst","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"E.M.","family":"Horn","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"J.A.","family":"Knowles","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"D.A.","family":"Marchuk","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"M.","family":"Letarte","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"J.H.","family":"Morse","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"81","published-online":{"date-parts":[[2004,3,1]]},"reference":[{"key":"2024101810432325000_23.3.373.1","unstructured":"Rich S, ed. 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