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

K. A. McAllister, K. M. Grogg, D. W. Johnson, C. J. Gallione, M. A. Baldwin, C. E. Jackson, E. A. Helmbold, D. S. Markel, W. C. McKinnon, J. Murrel, M. K. McCormick, M. A. Pericak-Vance, P. Heutink, B. A. Oostra, T. Haitjema, C. J.J. Westerman, M. E. Porteous, A. E. Guttmacher, M. Letarte, D. A. Marchuk

Research output: Contribution to journalArticlepeer-review

1114 Scopus citations

Abstract

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 β (TGF-β) 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-β receptor complex.

Original languageEnglish (US)
Pages (from-to)345-351
Number of pages7
JournalNature genetics
Volume8
Issue number4
DOIs
StatePublished - Dec 1994
Externally publishedYes

ASJC Scopus subject areas

  • Genetics

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