ArticleThorax2000
A hereditary haemorrhagic telangiectasia family with pulmonary involvement is unlinked to the known HHT genes, endoglin and ALK-1.
Article in Thorax, 2000. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 17 papers.
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Who cites it
17 citing papers in PubMed, 96 citations in OpenAlex.
- uAUG creating variants in the 5'UTR of ENG causing Hereditary Hemorrhagic Telangiectasia.NPJ genomic medicine · 2023Article
- Pulmonary hypertension in hereditary hemorrhagic telangiectasia: A clinical review.Pulmonary circulation · 2023Review
- Article
- Thalamic abscess in a patient with hereditary hemorrhagic telangiectasia successfully treated with an empiric antibiotic regime: case report and review of the literature.BMC infectious diseases · 2021Article
- Molecular and Genetic Profiling for Precision Medicines in Pulmonary Arterial Hypertension.Cells · 2021Review
- Connective Tissue Disorders and Cardiovascular Complications: The Indomitable Role of Transforming Growth Factor-β Signaling.Advances in experimental medicine and biology · 2021Article
- Connective tissue disorders and cardiovascular complications: the indomitable role of transforming growth factor-beta signaling.Advances in experimental medicine and biology · 2014Review
- Juvenile polyposis, hereditary hemorrhagic telangiectasia, and early onset colorectal cancer in patients with SMAD4 mutation.Journal of gastroenterology · 2012Article
- The molecular genetics and cellular mechanisms underlying pulmonary arterial hypertension.Scientifica · 2012Review
- Hereditary hemorrhagic telangiectasia with multiple hepatic and pulmonary nodular lesions.Clinical journal of gastroenterology · 2009Article
- Pulmonary nodular opacities in children with hereditary hemorrhagic telangiectasia.Pediatric radiology · 2007Article
- Three novel mutations in the activin receptor-like kinase 1 (ALK-1) gene in hereditary hemorrhagic telangiectasia type 2 in Brazilian patients.Journal of human genetics · 2007Article
- Hereditary hemorrhagic telangiectasia, a vascular dysplasia affecting the TGF-beta signaling pathway.Clinical medicine & research · 2006Review
- Hereditary hemorrhagic telangiectasia: ENG and ALK-1 mutations in Dutch patients.Human genetics · 2005Article
- Does any lower gastrointestinal bleeding in patients suffering from hereditary hemorrhagic telangiectasia (Osler-Weber-Rendu) necessitate a full colonic visualization?International journal of colorectal disease · 2004Article
- Hereditary haemorrhagic telangiectasia (Osler-Weber-Rendu syndrome): a view from the 21st century.Postgraduate medical journal · 2003Review
- Genetic aspects of cerebrovascular malformations.Interventional neuroradiology : journal of peritherapeutic neuroradiology, surgical procedures and related neurosciences · 2000Article
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Authors and funding
2 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundPulmonary arteriovenous malformations (PAVMs) occur in over 25% of patients with the autosomal dominant disorder hereditary haemorrhagic telangiectasia (HHT). Mutations in two genes, endoglin and ALK-1, are known to cause HHT. Each encodes a protein expressed on vascular endothelial cells and involved in signalling by members of the transforming growth factor (TGF)-beta superfamily. To date, PAVMs have not been detected in ALK-1 families. There is evidence from a single HHT family without pulmonary involvement that a third HHT gene may exist. To establish the existence of a further HHT gene responsible for PAVMs, linkage analyses were performed on an expanded PAVM-HHT family in which HHT did not result from endoglin mutations.
methodsFamily members were assessed clinically to assign HHT disease status and were screened for PAVMs. DNA was extracted from blood obtained from 20 individuals of known disease status. Short tandem repeat polymorphic markers spanning the intervals containing the endoglin and ALK-1 genes were amplified by the polymerase chain reaction using (33)P-labelled oligonucleotide primers, separated by denaturing polyacrylamide gel electrophoresis (PAGE), and the resultant autoradiographs were examined for allele sizes. Linkage analyses were performed using MLINK and GENEHUNTER.
resultsTwelve members spanning four generations were affected with HHT. Two had proven PAVMs, one with a classical appearance, the other exhibiting microscopic PAVMs exacerbated by pregnancy. Two point lod and multipoint lod scores significantly excluded linkage to endoglin and ALK-1 in this pedigree.
conclusionsThis study confirms the existence of a third HHT locus that accounts for disease in some HHT patients with pulmonary involvement.
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