{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,5]],"date-time":"2026-10-05T16:03:45Z","timestamp":1791216225807,"version":"4.1.0"},"reference-count":29,"publisher":"BMJ","issue":"7","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J Med Genet"],"published-print":{"date-parts":[[2005,7]]},"abstract":"\n Patients with hereditary haemorrhagic telangiectasia (HHT, or Osler-Weber-Rendu syndrome) have variable presentation patterns and a high risk of preventable complications. Diagnostic tests for mutations in\n endoglin<\/jats:italic>\n (HHT type 1) and\n ALK-1<\/jats:italic>\n (HHT type 2) are available. Some HHT patients are now known to have HHT-juvenile polyposis overlap syndrome due to\n Smad4<\/jats:italic>\n mutations. Families were ascertained following the presentation of probands for embolization of pulmonary arteriovenous malformations. Genome-wide linkage studies using over 700 polymorphic markers, and sequencing of candidate genes, were performed. In a previously described HHT family unlinked to\n endoglin<\/jats:italic>\n or\n ALK-1<\/jats:italic>\n , linkage to\n Smad4<\/jats:italic>\n was excluded, and no mutations were identified in the\n endoglin<\/jats:italic>\n ,\n ALK-1<\/jats:italic>\n , or\n Smad4<\/jats:italic>\n genes. Two point LOD scores and recombination mapping identified a 5.4 cM\n HHT3<\/jats:italic>\n disease gene interval on chromosome 5 in which a single haplotype was inherited by all affected members of the pedigree. The remainder of the genome was excluded to a 2\u20135 cM resolution. We are currently studying a further family potentially linked to\n HHT3<\/jats:italic>\n . We conclude that classical HHT with pulmonary involvement can result from mutations in an unidentified gene on chromosome 5. Identification of\n HHT3<\/jats:italic>\n should further illuminate HHT pathogenic mechanisms in which aberrant transforming growth factor (TGF)-\u03b2 signalling is implicated.\n <\/jats:p>","DOI":"10.1136\/jmg.2004.028712","type":"journal-article","created":{"date-parts":[[2005,7,1]],"date-time":"2005-07-01T14:25:29Z","timestamp":1120227929000},"page":"577-582","source":"Crossref","is-referenced-by-count":258,"title":["A new locus for hereditary haemorrhagic telangiectasia (\n HHT3<\/i>\n ) maps to chromosome 5"],"prefix":"10.1136","volume":"42","author":[{"given":"S G","family":"Cole","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"M E","family":"Begbie","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"G M F","family":"Wallace","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"C L","family":"Shovlin","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"239","published-online":{"date-parts":[[2005,7,1]]},"reference":[{"key":"2025101715222140000_42.7.577.1","doi-asserted-by":"publisher","DOI":"10.1046\/j.1365-2796.1999.00398.x"},{"key":"2025101715222140000_42.7.577.2","doi-asserted-by":"publisher","DOI":"10.1002\/humu.10026"},{"key":"2025101715222140000_42.7.577.3","doi-asserted-by":"publisher","DOI":"10.1038\/ng1294-345"},{"key":"2025101715222140000_42.7.577.4","doi-asserted-by":"publisher","DOI":"10.1038\/ng0696-189"},{"key":"2025101715222140000_42.7.577.5","doi-asserted-by":"publisher","DOI":"10.1016\/S0140-6736(04)15732-2"},{"key":"2025101715222140000_42.7.577.6","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.33.6.441"},{"key":"2025101715222140000_42.7.577.7","doi-asserted-by":"publisher","DOI":"10.1136\/thorax.55.8.685"},{"key":"2025101715222140000_42.7.577.8","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.39.7.e39"},{"key":"2025101715222140000_42.7.577.9","doi-asserted-by":"publisher","DOI":"10.1016\/S0002-9343(99)80229-0"},{"key":"2025101715222140000_42.7.577.10","doi-asserted-by":"publisher","DOI":"10.1046\/j.1365-2796.2000.00725.x"},{"key":"2025101715222140000_42.7.577.11","doi-asserted-by":"publisher","DOI":"10.1002\/1096-8628(20000814)93:4<320::AID-AJMG12>3.0.CO;2-R"},{"key":"2025101715222140000_42.7.577.12","doi-asserted-by":"publisher","DOI":"10.1136\/pmj.79.927.18"},{"key":"2025101715222140000_42.7.577.13","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.40.8.585"},{"key":"2025101715222140000_42.7.577.14","doi-asserted-by":"publisher","DOI":"10.1056\/NEJM200108023450503"},{"key":"2025101715222140000_42.7.577.15","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320320302"},{"key":"2025101715222140000_42.7.577.16","unstructured":"Hereditary Haemorrhagic Telangiectasia Foundation International. DNA screening test now available for all families with HHT. In: Direct Connection. Monkton, MD: Hereditary Haemorrhagic Telangiectasia Foundation International, Winter, 2003:1\u20132."},{"key":"2025101715222140000_42.7.577.17","doi-asserted-by":"publisher","DOI":"10.1136\/gut.51.1.21"},{"key":"2025101715222140000_42.7.577.18","doi-asserted-by":"publisher","DOI":"10.1002\/jcp.1080"},{"key":"2025101715222140000_42.7.577.19","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1096-8628(20000306)91:1<66::AID-AJMG12>3.0.CO;2-P"},{"key":"2025101715222140000_42.7.577.20","doi-asserted-by":"crossref","first-page":"903","DOI":"10.1258\/00222150260369417","volume":"116","year":"2002","journal-title":"J Laryngol Otol"},{"key":"2025101715222140000_42.7.577.21","first-page":"68","volume":"61","year":"1997","journal-title":"Am J Med Genet"},{"key":"2025101715222140000_42.7.577.22","doi-asserted-by":"publisher","DOI":"10.1038\/ng0294-205"},{"key":"2025101715222140000_42.7.577.23","unstructured":"Ott J. Analysis of human genetic linkage. 2nd ed. Baltimore, MD: Johns Hopkins University Press, 1992."},{"key":"2025101715222140000_42.7.577.24","doi-asserted-by":"publisher","DOI":"10.1091\/mbc.E03-01-0001"},{"key":"2025101715222140000_42.7.577.25","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.40.11.849"},{"key":"2025101715222140000_42.7.577.26","doi-asserted-by":"publisher","DOI":"10.1086\/379793"},{"key":"2025101715222140000_42.7.577.27","doi-asserted-by":"publisher","DOI":"10.1074\/jbc.274.2.584"},{"key":"2025101715222140000_42.7.577.28","doi-asserted-by":"publisher","DOI":"10.1074\/jbc.273.49.33011"},{"key":"2025101715222140000_42.7.577.29","doi-asserted-by":"publisher","DOI":"10.1016\/S1050-1738(03)00142-7"}],"container-title":["Journal of Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/syndication.highwire.org\/content\/doi\/10.1136\/jmg.2004.028712","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,10,17]],"date-time":"2025-10-17T22:22:27Z","timestamp":1760739747000},"score":1,"resource":{"primary":{"URL":"https:\/\/jmg.bmj.com\/lookup\/doi\/10.1136\/jmg.2004.028712"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2005,7]]},"references-count":29,"journal-issue":{"issue":"7","published-online":{"date-parts":[[2005,7,1]]},"published-print":{"date-parts":[[2005,7]]}},"alternative-id":["10.1136\/jmg.2004.028712"],"URL":"https:\/\/doi.org\/10.1136\/jmg.2004.028712","relation":{},"ISSN":["0022-2593","1468-6244"],"issn-type":[{"value":"0022-2593","type":"print"},{"value":"1468-6244","type":"electronic"}],"subject":[],"published":{"date-parts":[[2005,7]]}}}