{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,1,31]],"date-time":"2026-01-31T11:35:47Z","timestamp":1769859347529,"version":"3.49.0"},"reference-count":29,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2008,5,21]],"date-time":"2008-05-21T00:00:00Z","timestamp":1211328000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Clinical Genetics"],"published-print":{"date-parts":[[2008,8]]},"abstract":"<jats:p>Hereditary haemorrhagic telangiectasia (HHT) is a heterogeneous multisystemic dysplasia of the vascular tissue. This autosomal dominant inherited disorder shows a wide variation in its phenotypic expression. Between 8 and 78% of the HHT patients show arteriovenous malformations of the liver. The molecular basis for hepatic manifestation is still unknown. Two genes are known to play a major role in the development of HHT: activin A receptor type II\u2010like 1 gene (<jats:italic>ACVRL1<\/jats:italic>) and <jats:italic>ENG<\/jats:italic>. Previously, we and others showed that hepatic involvement is associated with mutations in the <jats:italic>ACVRL1 <\/jats:italic>gene, but rarely caused by <jats:italic>ENG <\/jats:italic>mutations. Here, we report about the sequencing analysis of a new cohort of 18 adult HHT patients. In these patients, we identified eight novel (four in <jats:italic>ACVRL1 <\/jats:italic>and four in <jats:italic>ENG<\/jats:italic>) and eight already known mutations. Statistical analysis of our entire data revealed significant differences in the distribution of <jats:italic>ACVRL1 <\/jats:italic>and <jats:italic>ENG <\/jats:italic>mutations among HHT patients with and without liver involvement (p\u2003=\u20030.0016). The positive predictive value for type 2 HHT (<jats:italic>ACVRL1 <\/jats:italic>positive) patients to develop liver disease until the age of 52\u2003years is 68.4%. We conclude that molecular genetic testing of HHT patients is important for prognosis with respect to liver disease.<\/jats:p>","DOI":"10.1111\/j.1399-0004.2008.01029.x","type":"journal-article","created":{"date-parts":[[2009,1,23]],"date-time":"2009-01-23T10:08:46Z","timestamp":1232705326000},"page":"171-177","source":"Crossref","is-referenced-by-count":18,"title":["Detection of a significant association between mutations in the <i>ACVRL1 <\/i>gene and hepatic involvement in German patients with hereditary haemorrhagic 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