Principal Investigator: Wim Wuyts
Osteochondromas are the most frequent hereditary bone tumours in children. Multiple osteochondromas (MO) is an autosomal dominant disorder characterized by the presence of many osteochondromas, often accompanied by skeletal deformities. In addition, MO patients have an increased risk for the development of chondrosarcomas.
Mutations in the EXT1 or EXT2 gene have been shown to be responsible for the osteochondroma development, but the mechanism(s) leading to chondrosarcoma transformation of an osteochondroma are poorly understood.
General goals for this research line are:
- Clinical end genetic characterization of MO
- Identification of genes and mechanisms leading to chondrosarcoma development
Major research accomplishments in the past:
- Identification of the MO causal gene EXT2
- Identification of the EXTL(like) genes (EXTL2, EXTL3)
- Determination of the MO mutation spectrum
- Genotype/phenotype studies of MO
- Development of diagnostic protocols for EXT1/EXT2 analysis
Current research topics:
- MO genotype-phenotype correlation studies
- Identification of chondrosarcoma causing genetic events