Genetic heterogeneity of multiple exostoses
- Inserm U393 Hopital des Enfants-Malades, Paris (France); and others
Hereditary multiple exostoses (EXT, MIM 133700) is an autosomal dominant bony disorder characterized by the formation of cartilage-capped juxta-epiphyseal prominences on the long bones. Three disease genes, mapping to chromosomes 8q24 and 11 have been recently localized, supporting genetic heterogeneity of this condition. We have refined the genetic mapping of the chromosome 19p locus using a series of six families unlinked to chromosomes 8 or 11. Several genes expressed during cartilage growth and located in this region have been tested as candidate genes, namely zinc finger proteins, protein kinases, JunD and JunB. Hitherto no major rearrangement of these genes has been detected in EXT families linked to chromosome 19p.
- OSTI ID:
- 134057
- Report Number(s):
- CONF-941009--
- Journal Information:
- American Journal of Human Genetics, Journal Name: American Journal of Human Genetics Journal Issue: Suppl.3 Vol. 55; ISSN AJHGAG; ISSN 0002-9297
- Country of Publication:
- United States
- Language:
- English
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