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

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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.

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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AU - Haitjema, T.

AU - Westerman, C. J.J.

AU - Porteous, M. E.

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AU - Marchuk, D. A.

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

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