Erschienen in:
01.07.2015 | Scientific Letter
Mutational Analysis of Exostosin 1 and 2 Genes in Multiple Osteochondroma
verfasst von:
K. Malini, Narayan S. Gudi, A. V. M. Kutty, Sharath Balakrishna
Erschienen in:
Indian Journal of Pediatrics
|
Ausgabe 7/2015
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Excerpt
To the Editor: Multiple Osteochondroma (MO) or Multiple Exostosis is a skeletal disorder characterized by out-growth of benign cartilage-capped bone tumors arising from the metaphyses of long tubular bones or from the surface of flat bones like scapula. MO is an autosomal dominant disorder associated with mutations in tumor suppressor genes, Exostosin-1 (
EXT1) or Exostosin-2 (
EXT2) in upto 95% of the patients [
1]. The two genes affect heparin sulfate synthesis and thus chondrocyte proliferation and differentiation. We report the discovery of a non-sense mutation in
EXT2 in an 11-y-old boy diagnosed with MO. The patient also had bilateral Madelung deformity of wrist. …