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

Journal Article (Journal Article)

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.

Full Text

Duke Authors

Cited Authors

  • McAllister, KA; Grogg, KM; Johnson, DW; Gallione, CJ; Baldwin, MA; Jackson, CE; Helmbold, EA; Markel, DS; McKinnon, WC; Murrell, J

Published Date

  • December 1994

Published In

Volume / Issue

  • 8 / 4

Start / End Page

  • 345 - 351

PubMed ID

  • 7894484

International Standard Serial Number (ISSN)

  • 1061-4036

Digital Object Identifier (DOI)

  • 10.1038/ng1294-345


  • eng

Conference Location

  • United States