{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,23]],"date-time":"2026-10-23T23:27:07Z","timestamp":1792798027094,"version":"4.5.0"},"reference-count":15,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2015,6,5]],"date-time":"2015-06-05T00:00:00Z","timestamp":1433462400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"name":"Regional Core Facility for Structural Biology and Bioinformatics at the South-Eastern Norway Regional Health Authority","award":["2012085"],"award-info":[{"award-number":["2012085"]}],"id":[{"id":"https:\/\/ror.org\/001212e83","id-type":"ROR","asserted-by":"crossref"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Clinical Genetics"],"published-print":{"date-parts":[[2016,2]]},"abstract":"\n Hereditary hemorrhagic telangiectasia (\n HHT<\/jats:styled-content>\n , Osler\u2013Weber\u2013Rendu disease) is an autosomal dominant inherited disease defined by the presence of epistaxis and mucocutaneous telangiectasias and arteriovenous malformations (\n AVMs<\/jats:styled-content>\n ) in internal organs. In most families (\u223c85%),\n HHT<\/jats:styled-content>\n is caused by mutations in the\n \n ENG<\/jats:styled-content>\n <\/jats:italic>\n (\n HHT1<\/jats:styled-content>\n ) or the\n \n ACVRL1<\/jats:styled-content>\n <\/jats:italic>\n (\n HHT2<\/jats:styled-content>\n ) genes. Here, we report the results of genetic testing of 113 Norwegian families with suspected or definite\n HHT<\/jats:styled-content>\n . Variants in\n \n ENG<\/jats:styled-content>\n <\/jats:italic>\n and\n \n ACVRL1<\/jats:styled-content>\n <\/jats:italic>\n were found in 105 families (42\n \n ENG<\/jats:styled-content>\n <\/jats:italic>\n , 63\n \n ACVRL1<\/jats:styled-content>\n <\/jats:italic>\n ), including six novel variants of uncertain pathogenic significance. Mutation types were similar to previous reports with more missense variants in\n \n ACVRL1<\/jats:styled-content>\n <\/jats:italic>\n and more nonsense, frameshift and splice\u2010site mutations in\n \n ENG<\/jats:styled-content>\n <\/jats:italic>\n . Thirty\u2010two variants were novel in this study. The preponderance of\n \n ACVRL1<\/jats:styled-content>\n <\/jats:italic>\n mutations was due to founder mutations, specifically, c.\n 830C<\/jats:styled-content>\n >A (p.\n Thr277Lys<\/jats:styled-content>\n ), which was found in 24 families from the same geographical area of Norway. We discuss the importance of founder mutations and present a thorough evaluation of missense and splice\u2010site variants.\n <\/jats:p>","DOI":"10.1111\/cge.12612","type":"journal-article","created":{"date-parts":[[2015,5,13]],"date-time":"2015-05-13T12:13:38Z","timestamp":1431519218000},"page":"182-186","source":"Crossref","is-referenced-by-count":12,"title":["Mutation analysis in Norwegian families with hereditary hemorrhagic telangiectasia: founder mutations in\n \n ACVRL1<\/scp>\n <\/i>"],"prefix":"10.1111","volume":"89","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-8911-3508","authenticated-orcid":false,"given":"K.","family":"Heimdal","sequence":"first","affiliation":[{"name":"Department of Medical Genetics Oslo University Hospital Oslo Norway"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"B.","family":"Dalhus","sequence":"additional","affiliation":[{"name":"Department for Medical Biochemistry University of Oslo Oslo Norway"},{"name":"Department for Microbiology Oslo University Hospital Oslo Norway"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"O.K.","family":"R\u00f8dningen","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics Oslo University Hospital Oslo Norway"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"M.","family":"Kroken","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics Oslo University Hospital Oslo Norway"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"K.","family":"Eiklid","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics Oslo University Hospital Oslo Norway"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"S.","family":"Dheyauldeen","sequence":"additional","affiliation":[{"name":"Department for Otorhinolaryngology Oslo University Hospital Oslo Norway"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"T.","family":"R\u00f8ysland","sequence":"additional","affiliation":[{"name":"Department for Otorhinolaryngology Oslo University Hospital Oslo Norway"},{"name":"Department for Otorhinolaryngology Innlandet Hospital Gj\u00f8vik Norway"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"R.","family":"Andersen","sequence":"additional","affiliation":[{"name":"Department of Radiology and Nuclear Medicine Oslo University Hospital Oslo Norway"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"M.A.","family":"Kulseth","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics Oslo University Hospital Oslo Norway"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2015,6,5]]},"reference":[{"key":"e_1_2_6_2_1","doi-asserted-by":"publisher","DOI":"10.1097\/01.GIM.0000132689.25644.7C"},{"key":"e_1_2_6_3_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320320302"},{"key":"e_1_2_6_4_1","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1096-8628(20000306)91:1<66::AID-AJMG12>3.0.CO;2-P"},{"key":"e_1_2_6_5_1","doi-asserted-by":"publisher","DOI":"10.1111\/cge.12269"},{"key":"e_1_2_6_6_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.2010.01596.x"},{"key":"e_1_2_6_7_1","unstructured":"The HHT Mutation Database 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