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

Nat Genet. 1995 Oct;11(2):137-43. doi: 10.1038/ng1095-137.


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.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't
  • Research Support, U.S. Gov't, P.H.S.

MeSH terms

  • Amino Acid Sequence
  • Base Sequence
  • Chromosome Mapping
  • Chromosomes, Human, Pair 8*
  • Cloning, Molecular
  • Cosmids
  • DNA Mutational Analysis
  • DNA Primers
  • Exostoses, Multiple Hereditary / genetics*
  • Female
  • Gene Library
  • Genes, Tumor Suppressor*
  • Genetic Linkage
  • Humans
  • In Situ Hybridization, Fluorescence
  • Langer-Giedion Syndrome / genetics
  • Male
  • Molecular Sequence Data
  • Pedigree
  • Polymerase Chain Reaction
  • Promoter Regions, Genetic
  • Protein Biosynthesis
  • Restriction Mapping


  • DNA Primers

Associated data

  • GENBANK/S79639