A mouse model of chondrocyte-specific somatic mutation reveals a role for Ext1 loss of heterozygosity in multiple hereditary exostoses.

@article{Matsumoto2010AMM,
  title={A mouse model of chondrocyte-specific somatic mutation reveals a role for Ext1 loss of heterozygosity in multiple hereditary exostoses.},
  author={Kazu Matsumoto and Fumitoshi Irie and Susan Mackem and Yu Yamaguchi},
  journal={Proceedings of the National Academy of Sciences of the United States of America},
  year={2010},
  volume={107 24},
  pages={10932-7}
}
Multiple hereditary exostoses (MHE) is one of the most common skeletal dysplasias, exhibiting the formation of multiple cartilage-capped bony protrusions (osteochondroma) and characteristic bone deformities. Individuals with MHE carry heterozygous loss-of-function mutations in Ext1 or Ext2, genes which together encode an enzyme essential for heparan sulfate synthesis. Despite the identification of causative genes, the pathogenesis of MHE remains unclear, especially with regard to whether… CONTINUE READING