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The aggrecanopathies; an evolving phenotypic spectrum of human genetic skeletal diseases

Lookup NU author(s): Dr Beth Gibson, Professor Michael Briggs

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This work is licensed under a Creative Commons Attribution 4.0 International License (CC BY 4.0).


Abstract

The large chondroitin sulphated proteoglycan aggrecan (ACAN) is the most abundant non-collagenous protein in cartilage and is essential for its structure and function. Mutations in ACAN result in a broad phenotypic spectrum of non-lethal skeletal dysplasias including spondyloepimetaphyseal dysplasia, spondyloepiphyseal dysplasia, familial osteochondritis dissecans and various undefined short stature syndromes associated with accelerated bone maturation. However, very little is currently known about the disease pathways that underlie these aggrecanopathies, although they are likely to be a combination of haploinsufficiency and dominant-negative (neomorphic) mechanisms. This review discusses the known human and animal aggrecanopathies in the context of clinical presentation and potential disease mechanisms.


Publication metadata

Author(s): Gibson BG, Briggs MD

Publication type: Review

Publication status: Published

Journal: Orphanet Journal of Rare Diseases

Year: 2016

Volume: 11

Online publication date: 28/06/2016

Acceptance date: 27/05/2016

ISSN (electronic): 1750-1172

Publisher: BIOMED CENTRAL LTD

URL: http://dx.doi.org/10.1186/s13023-016-0459-2

DOI: 10.1186/s13023-016-0459-2


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