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

doi:10.1038/ng1294-345

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 journal › Article › peer-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 language	English (US)
Pages (from-to)	345-351
Number of pages	7
Journal	Nature genetics
Volume	8
Issue number	4
DOIs	https://doi.org/10.1038/ng1294-345
State	Published - Dec 1994
Externally published	Yes

ASJC Scopus subject areas

Genetics

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McAllister, K. A., Grogg, K. M., Johnson, D. W., Gallione, C. J., Baldwin, M. A., Jackson, C. E., Helmbold, E. A., Markel, D. S., McKinnon, W. C., Murrel, J., McCormick, M. K., Pericak-Vance, M. A., Heutink, P., Oostra, B. A., Haitjema, T., Westerman, C. J. J., Porteous, M. E., Guttmacher, A. E., Letarte, M., & Marchuk, D. A. (1994). Endoglin, a TGF-β binding protein of endothelial cells, is the gene for hereditary haemorrhagic telangiectasia type 1. Nature genetics, 8(4), 345-351. https://doi.org/10.1038/ng1294-345

Endoglin, a TGF-β binding protein of endothelial cells, is the gene for hereditary haemorrhagic telangiectasia type 1. / McAllister, K. A.; Grogg, K. M.; Johnson, D. W.; Gallione, C. J.; Baldwin, M. A.; Jackson, C. E.; Helmbold, E. A.; Markel, D. S.; McKinnon, W. C.; Murrel, J.; McCormick, M. K.; Pericak-Vance, M. A.; Heutink, P.; Oostra, B. A.; Haitjema, T.; Westerman, C. J.J.; Porteous, M. E.; Guttmacher, A. E.; Letarte, M.; Marchuk, D. A.

In: Nature genetics, Vol. 8, No. 4, 12.1994, p. 345-351.

Research output: Contribution to journal › Article › peer-review

McAllister, KA, Grogg, KM, Johnson, DW, Gallione, CJ, Baldwin, MA, Jackson, CE, Helmbold, EA, Markel, DS, McKinnon, WC, Murrel, J, McCormick, MK, Pericak-Vance, MA, Heutink, P, Oostra, BA, Haitjema, T, Westerman, CJJ, Porteous, ME, Guttmacher, AE, Letarte, M & Marchuk, DA 1994, 'Endoglin, a TGF-β binding protein of endothelial cells, is the gene for hereditary haemorrhagic telangiectasia type 1', Nature genetics, vol. 8, no. 4, pp. 345-351. https://doi.org/10.1038/ng1294-345

McAllister, K. A. ; Grogg, K. M. ; Johnson, D. W. ; Gallione, C. J. ; Baldwin, M. A. ; Jackson, C. E. ; Helmbold, E. A. ; Markel, D. S. ; McKinnon, W. C. ; Murrel, J. ; McCormick, M. K. ; Pericak-Vance, M. A. ; Heutink, P. ; Oostra, B. A. ; Haitjema, T. ; Westerman, C. J.J. ; Porteous, M. E. ; Guttmacher, A. E. ; Letarte, M. ; Marchuk, D. A. / Endoglin, a TGF-β binding protein of endothelial cells, is the gene for hereditary haemorrhagic telangiectasia type 1. In: Nature genetics. 1994 ; Vol. 8, No. 4. pp. 345-351.

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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.",

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