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Indian Journal of Pediatrics
Published in: Indian Journal of Pediatrics 7/2015

01-07-2015 | Scientific Letter

Mutational Analysis of Exostosin 1 and 2 Genes in Multiple Osteochondroma

Authors: K. Malini, Narayan S. Gudi, A. V. M. Kutty, Sharath Balakrishna

Published in: Indian Journal of Pediatrics | Issue 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. …
Literature
1.
Jennes I, Pedrini E, Zuntini M, Marina M, Balkassmi S, Asteggiano CG, et al. Multiple osteochondromas: mutation update and description of the multiple osteochondromas mutations database (MOdb). Human Mut. 2009;30:1620–7.CrossRef
2.
Philippe C, Porter DE, Emerton ME, Wells DE, Simpson AHRW, Monaco AP. Mutation screening of the EXT1 and EXT2 genes in patients with hereditary multiple exostoses. Am J Hum Genet. 1997;61:520–8.PubMedCentralPubMedCrossRef
3.
Gigante M, Matera MG, Seripa D, Izzo AM, Venanzi R, Giannotti A, et al. Ext-mutation analysis in Italian sporadic and hereditary osteochondromas. Int J Cancer. 2001;95:378–83.PubMedCrossRef
4.
Signori E, Massi E, Matera MG, Poscente M, Gravina C, Falcone G, et al. A combined analytical approach reveals novel EXT1/2 gene mutations in a large cohort of Italian multiple osteochondromas patients. Genes Chrom Cancer. 2007;46:470–7.PubMedCrossRef
5.
Metadata
Title
Mutational Analysis of Exostosin 1 and 2 Genes in Multiple Osteochondroma
Authors
K. Malini
Narayan S. Gudi
A. V. M. Kutty
Sharath Balakrishna
Publication date
01-07-2015
Publisher
Springer India
Published in
Indian Journal of Pediatrics / Issue 7/2015
Print ISSN: 0019-5456
Electronic ISSN: 0973-7693
DOI
https://doi.org/10.1007/s12098-014-1675-1

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