2006
DOI: 10.1002/ajmg.a.31101
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Abstract: Hereditary hemorrhagic telangiectasia (HHT) is a genetically heterogeneous vascular dysplasia with multiple telangiectases and arteriovenous malformations and it is caused by mutations in endoglin gene (ENG) (HHT1) and activin A receptor type II-like 1 gene (ACVRL1) (HHT2). We evaluated 111 patients with HHT from 34 families by history, examination, screening for vascular malformations, and sequencing of both genes. We found mutations in 26 of the 34 kindreds (76%) analyzed-54% were in ENG and 46% were in ACVR… Show more

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Cited by 198 publications
(264 citation statements)
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“…Pulmonary AVMs are more common in HHT1 than HHT2, 22-27 though in the relatively small number of SMAD4 patients described, the prevalence of PAVMs may be higher still. 127 HHT1 patients are also more commonly affected by cerebral AVMs, [23][24][25][26] and by microscopic intrapulmonary shunting. In one series, positive contrast echocardiography reflecting intrapulmonary shunting was found in 85% of HHT1 patients, and 35% of HHT2 patients 52 compared to 7% of a control normal population.…”
Section: 2b) Genotype Phenotype Correlationsmentioning
confidence: 99%
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“…Pulmonary AVMs are more common in HHT1 than HHT2, 22-27 though in the relatively small number of SMAD4 patients described, the prevalence of PAVMs may be higher still. 127 HHT1 patients are also more commonly affected by cerebral AVMs, [23][24][25][26] and by microscopic intrapulmonary shunting. In one series, positive contrast echocardiography reflecting intrapulmonary shunting was found in 85% of HHT1 patients, and 35% of HHT2 patients 52 compared to 7% of a control normal population.…”
Section: 2b) Genotype Phenotype Correlationsmentioning
confidence: 99%
“…Many hundreds of different mutations have been described in HHT families, with no common mutation identified ( 21 , summarised in 3 ). The mutated gene has some Blood Reviews _ HHT 2010_ Shovlin 4 influence on the resultant HHT phenotype, [22][23][24][25][26][27] although more profound variation in disease expression is seen between members of the same family.…”
Section: Overview Of Hhtmentioning
confidence: 99%
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“…Based on several studies, 9% to 16% of hereditary hemorrhagic telangiectasia patients had an AVM, 27% of whom had a history of ICH. [44][45][46][47] Homozygous loss of these genes leads to death in utero. 48 ENG and ALK1 are expressed on ECs and bind TGF-β, modulating EC proliferation, migration, adhesion, and apoptosis.…”
Section: Endoglin and Its Role In Inflammation And Vascular Remodelingmentioning
confidence: 99%
“…[46] As a class, the inherited AVMs in HHT have some distinguishing morphological features, but are generally similar to the sporadic lesions and cannot be distinguished individually on the basis of their angioarchitecture [37,40]. Brain AVMs are approximately ten times more common in HHT1/ENG (~20%) than HHT2/ALK-1 (~2%) patients [6,36,50]. Compared to sporadic lesions, presence of an ENG or ALK-1 mutation results in approximately a 1,000 and 100 fold increased risk, respectively, of developing a brain AVM.…”
Section: Mendelian Diseasementioning
confidence: 99%