Endoglin, a TGF-beta binding protein of endothelial cells, is the gene for hereditary haemorrhagic telangiectasia type 1.

Authors: McAllister, KA  Grogg, KM  Johnson, DW  Gallione, CJ  Baldwin, MA  Jackson, CE  Helmbold, EA  Markel, DS  McKinnon, WC  Murrell, J 
Citation: McAllister KA, etal., Nat Genet. 1994 Dec;8(4):345-51.
Pubmed: (View Article at PubMed) PMID:7894484
DOI: Full-text: DOI:10.1038/ng1294-345

Hereditary haemorrhagic telangiectasia (HHT) is an autosomal dominant disorder characterized by multisystemic vascular dysplasia and recurrent haemorrhage. Linkage for some families has been established to chromosome 9q33-q34. In the present study, endoglin, a transforming growth factor beta (TGF-beta) binding protein, was analysed as a candidate gene for the disorder based on chromosomal location, expression pattern and function. We have identified mutations in three affected individuals: a C to G substitution converting a tyrosine to a termination codon, a 39 base pair deletion and a 2 basepair deletion which creates a premature termination codon. We have identified endoglin as the HHT gene mapping to 9q3 and have established HHT as the first human disease defined by a mutation in a member of the TGF-beta receptor complex.

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CRRD ID: 1601038
Created: 2007-04-04
Species: All species
Last Modified: 2007-04-04
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.