alexa Current Knowledge on Exostoses Formation in Hereditary Multiple Exostoses: Where do Exostoses Originate and in What Way is their Growth Regulated
ISSN: 2161-1041

Hereditary Genetics: Current Research
Open Access

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Review Article

Current Knowledge on Exostoses Formation in Hereditary Multiple Exostoses: Where do Exostoses Originate and in What Way is their Growth Regulated

Staal HM1*, Witlox AMA1, Mooij DT1, Emans PJ1, Ham JSJ2, van Rhijn LW1 and Welting TJM1

1Department of Orthopaedic Surgery, Research School Caphri, Maastricht University Medical Centre, The Netherlands

2Department of Orthopaedic Surgery, Onze Lieve Vrouwe Gasthuis, Amsterdam, The Netherlands

*Corresponding Author:
Heleen M Staal
P Debeyelaan
Maastricht University Medical Centre
The Netherlands
Tel: 0031-43-3875038
E-mail: [email protected]

Received June 23, 2014; Accepted date: August 27, 2014; Published date August 29, 2014

Citation: Staal HM, Witlox AMA, Mooij DT, Emans PJ, Ham JSJ, et al. (2014) Current Knowledge on Exostoses Formation in Hereditary Multiple Exostoses: Where do Exostoses Originate and in What Way is their Growth Regulated?. Hereditary Genet 3:134. doi: 10.4172/2161-1041.1000134

Copyright: © 2014 Staal H, et al. This is an open-access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited



Multiple hereditary exostoses is an autosomal dominant inherited disease causing exostoses: growth on the bones of children. The disease is mainly caused by mutated exostosin (EXT)-1 or EXT-2 genes. These mutations yield non-functional EXT-gene products. Lack of functional proteins cause a defect in heparan sulphate synthesis and therefore in proteoglycan modification and cell signalling. It is assumed that a subset of chondrocytes form an exostoses, through a growth and differentiation process which is only partially understood. The place of origin of these exostoses-forming chondrocytes is still unknown. We also do not know in detail which processes influence the exostoses growth, and what shelters the exostoses from being resorbed by osteoclast activity. In this paper we systematically review the major pathophysiological theories of exostoses, with a focus on the aforementioned knowledge gaps.


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