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Cloning of the putative tumour suppressor gene for hereditary multiple exostoses (EXT1)

Nature Genetics volume 11, pages 137–143 (1995)Cite this article

Abstract

Hereditary multiple exostoses is an autosomal dominant disorder that is characterized by short stature and multiple, benign bone tumours. In a majority of families, the genetic defect (EXT1) is linked to the Langer–Giedion syndrome chromosomal region in 8q24.1. From this region we have cloned and characterized a cDNA which spans chromosomal breakpoints previously identified in two multiple exostoses patients. Furthermore, the gene harbours frameshift mutations in affected members of two EXT1 families. The cDNA has a coding region of 2,238 bp with no apparent homology to other known gene sequences and thus its function remains elusive. However, recent studies in sporadic and exostosis–derived chondrosarcomas suggest that the 8q24.1–encoded EXT1 gene may have tumour suppressor function.

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Author notes

  1. Jung Ahn and Hermann-Josef Lüdecke: J.A. & H.-J.L. contributed equally to the work.

Authors and Affiliations

  1. Department of Biology and Institute for Molecular Biology, University of Houston, 4800 Calhoun, Houston, Texas, 77204-5513, USA

    Jung Ahn, Michael J. Wagner & Dan E. Wells

  2. Institut für Humangenetik, Universitätsklinikum, Hufelandstr.55, Essen, D-45122, Germany

    Hermann-Josef Lüdecke, Steffi Lindow & Bernhard Horsthemke

  3. Shriners Hospital for Crippled Children, Portland, Oregon, 97201, USA

    William A. Horton & Brendan Lee

Authors
  1. Jung Ahn
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  2. Hermann-Josef Lüdecke
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  3. Steffi Lindow
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  4. William A. Horton
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  5. Brendan Lee
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  6. Michael J. Wagner
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  7. Bernhard Horsthemke
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  8. Dan E. Wells
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Ahn, J., Lüdecke, HJ., Lindow, S. et al. Cloning of the putative tumour suppressor gene for hereditary multiple exostoses (EXT1). Nat Genet 11, 137–143 (1995). https://doi.org/10.1038/ng1095-137

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