Endoglin, a TGF-beta binding protein of endothelial cells, is the gene for hereditary haemorrhagic telangiectasia type 1.
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.
Duke Scholars
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Related Subject Headings
- Vascular Cell Adhesion Molecule-1
- Transforming Growth Factor beta
- Terminator Regions, Genetic
- Telangiectasia, Hereditary Hemorrhagic
- Receptors, Cell Surface
- Pedigree
- Molecular Sequence Data
- Membrane Glycoproteins
- Male
- Humans
Citation
Published In
DOI
ISSN
Publication Date
Volume
Issue
Start / End Page
Location
Related Subject Headings
- Vascular Cell Adhesion Molecule-1
- Transforming Growth Factor beta
- Terminator Regions, Genetic
- Telangiectasia, Hereditary Hemorrhagic
- Receptors, Cell Surface
- Pedigree
- Molecular Sequence Data
- Membrane Glycoproteins
- Male
- Humans