J. Ahn, H-J. Luedecke, S. Lindlow, W. Horton, B. Lee, M.J. Wagner. B. Horstemke,
and D.E. Wells. (1995) Cloning the putative tumour suppressor gene for hereditary
multiple exostoses (EXT1). Nature Genetics: 11:137-143.
Abstract
Hereditary multiple exostoses is an autosomal dominant disorder which is
characterized by short stature and multiple, benign bone tumors. In a majority
of families, the genetic defect is linked to the Langer-Giedion syndrome chromosomal
region (LGCR) in 8q24.1. From this region we have cloned and characterized a cDNA
which spans chromosomal breakpoints previously identified in two multiple exostoses
patients. The cDNA has an open reading frame of 2,238 bp with no apparent homology
to other known gene sequences. The identification of a one base pair deletion in this
gene which segregates with the disease in two unrelated families makes this a strong
candidate for the EXT1 gene.
See the EXT1 home page for more information.
